Tag

Calcium

21 genetic variants with this tag.

RSID	Gene	Description	Category
rs1006737	CACNA1C	L-type calcium channel gene variant affecting mood regulation, emotional proc...	Mood & Behavior	Calcium	Strong
rs12640848	ENAM	Intronic variant in the ENAM enamelin gene associated with altered dental car...	Dental & Oral Health	Calcium	Moderate
rs17878486	AMELX	Intronic variant in amelogenin X-linked gene affecting enamel mineralization ...	Dental & Oral Health	Calcium	Moderate
rs198968	KLK4	Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expres...	Dental & Oral Health	Calcium	Moderate
rs10405121	CACNA1A	Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutate...	Neurology & Cognition	Calcium	Strong
rs2235091	KLK4	Intronic variant in kallikrein-4 that encodes the enamel maturation protease;...	Dental & Oral Health	Calcium	Moderate
rs17249754	ATP2B1	Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces...	Blood Pressure & Hypertension	Calcium	Strong
rs2242670	KLK4	Intronic variant near the KLK4 enamel-maturation protease gene associated wit...	Dental & Oral Health	Calcium	Moderate
rs2681472	ATP2B1	Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most...	Blood Pressure & Hypertension	Calcium	Strong
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Calcium	Strong
rs3748079	ITPR3 ITPR3 rs3748079	Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a...	B-Cell Immunity & Antibody-Mediated Disease	Calcium	Moderate
rs1800012	COL1A1 Sp1 Binding Site	Sp1 transcription factor binding site polymorphism affecting collagen product...	Fitness & Body	Calcium	Strong
rs2908004	WNT16 Gly82Arg	Missense variant in WNT16 that substitutes glycine for arginine at position 8...	Fitness & Body	Calcium	Strong
rs3801387	WNT16	Intronic variant affecting cortical bone thickness, bone mineral density, and...	Fitness & Body	Calcium	Established
rs41309766	NOTCH1 c.4512del (p.Cys1505fs)	Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers...	Cardiomyopathy & Structural Heart	Calcium	Strong
rs4988321	LRP5 Val667Met	Missense variant in LRP5 that substitutes valine for methionine at position 6...	Fitness & Body	Calcium	Moderate
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Calcium	Strong
rs63749869	RYR1 R4861H (Arg4861His)	RYR1 missense variant causing malignant hyperthermia susceptibility and centr...	Fitness & Body	Calcium	Established
rs956572	BCL2	Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression...	Mood & Behavior	Calcium	Moderate
rs9594759	TNFSF11	Regulatory variant in the RANKL gene affecting bone mineral density and osteo...	Fitness & Body	Calcium	Strong
rs61734410	CACNA1H Pro640Leu	Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the L...	Neurology & Cognition	Calcium	Moderate