Tag

Pancreatic Beta Cell

35 genetic variants with this tag.

RSID	Gene	Description	Category
rs10010131	WFS1 WFS1 Intron 4 T2D Risk Variant	Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest ...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs10278336	YKT6 GCK-Region Intronic Variant	Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs10515237	PCSK1 PCSK1 A/G (rs10515237)	Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red...	Appetite & Obesity	Pancreatic Beta Cell	Moderate
rs104894007	GCK Thr228Met (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Established
rs11037909	EXT2	Intronic EXT2 variant associated with a modest increase in type 2 diabetes su...	Appetite & Obesity	Pancreatic Beta Cell	Moderate
rs11052552	CLECL1	Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass...	Appetite & Obesity	Pancreatic Beta Cell	Moderate
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs1111875	HHEX HHEX/IDE locus T2D risk variant	Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earlies...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Established
rs1143699	PTPRS PTPRS C/T (rs1143699)	Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Pancreatic Beta Cell	Strong
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Pancreatic Beta Cell	Moderate
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs193922339	GCK	Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...	Metabolic Enzymes & Rare Disorders	Pancreatic Beta Cell	Strong
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs1495377	TSPAN8	Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs1884614	HNF4A HNF4A P2 Promoter rs1884614	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...	Hormones & Sleep	Pancreatic Beta Cell	Moderate
rs1537373	CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant	Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs6232	PCSK1 PCSK1 N221D (Asn221Asp)	Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca...	Appetite & Obesity	Pancreatic Beta Cell	Strong
rs6234	PCSK1 PCSK1 Q665E (Gln665Glu)	Missense variant in PCSK1 that causes a Gln665Glu substitution in the C-termi...	Appetite & Obesity	Pancreatic Beta Cell	Strong
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Pancreatic Beta Cell	Moderate
rs6235	PCSK1 PCSK1 S690T (Ser690Thr)	Missense variant encoding the Ser690Thr substitution in the C-terminal domain...	Appetite & Obesity	Pancreatic Beta Cell	Strong
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs193929374	GCK GCK Ala378Val (MODY2)	Pathogenic missense variant in glucokinase that raises the glucose set-point ...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Established
rs2268574	GCK c.679+38T>G	Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Emerging
rs4810424	R3HDML R3HDML rs4810424	Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...	Fat Storage & Energy	Pancreatic Beta Cell	Moderate
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs4607517	GCK GCK fasting glucose GWAS variant	Common intronic variant near glucokinase that raises fasting glucose by impai...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong
rs4807015	PTPRS PTPRS T2D risk variant	Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs492594	G6PC2 Val219Leu	Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs5015480	HHEX HHEX/IDE locus variant	Regulatory variant near HHEX and IDE linked to impaired beta-cell development...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Established
rs5210	KCNJ11 KCNJ11 Kir6.2 Co-Variant	A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Moderate
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Pancreatic Beta Cell	Strong