Tag

Carrier Status

91 genetic variants with this tag.

RSID	Gene	Description	Category
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Carrier Status	Strong
rs121434287	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing ...	Iron & Mineral Transport	Carrier Status	Established
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Carrier Status	Established
rs104893665	SPR Arg150Gly	Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosy...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Carrier Status	Established
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Carrier Status	Strong
rs121434288	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Carrier Status	Established
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Carrier Status	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Carrier Status	Established
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs121434289	SLC39A4 Gly374Arg	Missense variant in ZIP4 zinc transporter causing total loss of intestinal zi...	Iron & Mineral Transport	Carrier Status	Established
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Carrier Status	Strong
rs118204437	GALNS Arg386Cys	Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121434290	SLC39A4 SLC39A4 p.Asn106Lys	Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...	Iron & Mineral Transport	Carrier Status	Established
rs121917746	SPR Q119X	Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, ca...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Carrier Status	Established
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Carrier Status	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs121434291	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Carrier Status	Established
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Carrier Status	Strong
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Carrier Status	Established
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Carrier Status	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Neurology & Cognition	Carrier Status	Established
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs200482978	SLC39A4	Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating...	Iron & Mineral Transport	Carrier Status	Established
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Carrier Status	Established
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Carrier Status	Established
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	Carrier Status	Established
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	Carrier Status	Established
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Carrier Status	Strong
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Moderate
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Carrier Status	Strong
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs387906675	PROS1 Y234C	Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Strong
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Carrier Status	Established
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Carrier Status	Emerging
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Moderate
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Carrier Status	Emerging
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Carrier Status	Strong
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	Carrier Status	Established
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs72553883	TNFRSF13B A181E	Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,...	B-Cell Immunity & Antibody-Mediated Disease	Carrier Status	Strong
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Carrier Status	Strong
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs137853000	TMPRSS3 p.Arg216Leu (R216L)	Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causin...	Neurology & Cognition	Carrier Status	Strong
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Carrier Status	Established
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Carrier Status	Established
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Strong
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Carrier Status	Established
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Carrier Status	Established
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Carrier Status	Strong
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Carrier Status	Strong
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Carrier Status	Strong
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Carrier Status	Strong
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Carrier Status	Established
rs45598239	TMPRSS3	Missense variant tagging the TMPRSS3 hearing loss locus on chromosome 21, ass...	Neurology & Cognition	Carrier Status	Moderate
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Carrier Status	Established