rs1042523

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1042523(A;G)

Make rs1042523(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

57562751

Gene

PCK1

is a	snp
is	mentioned by
dbSNP	rs1042523
dbSNP (classic)	rs1042523
ClinGen	rs1042523
ebi	rs1042523
HLI	rs1042523
Exac	rs1042523
Gnomad	rs1042523
Varsome	rs1042523
LitVar	rs1042523
Map	rs1042523
PheGenI	rs1042523
Biobank	rs1042523
1000 genomes	rs1042523
hgdp	rs1042523
ensembl	rs1042523
geneview	rs1042523
scholar	rs1042523
google	rs1042523
pharmgkb	rs1042523
gwascentral	rs1042523
openSNP	rs1042523
23andMe	rs1042523
SNPshot	rs1042523
SNPdbe	rs1042523
MSV3d	rs1042523
GWAS Ctlg	rs1042523

GMAF

0.3214

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

Rs1042523
PubMed	[PMID 17192490]
Affy Probeset	SNP_A-8435432
Affy Orientation	same
On GW 5.0	0
Alleles A/B	A/G
Ancestral	G
Population	NEU(Finnland)
Allele	G
Case Freq.
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All	1.27
Disease	Type II Diabetes (T2D)

rs1042523 is in linkage disequilibrium with a polymorphism that increases susceptibility to Type II Diabetes 1.27 times for carriers of the G allele [PMID 17192490]

ClinVar
Risk	rs1042523(G;G)
Alt	rs1042523(G;G)
Reference	Rs1042523(A;A)
Significance	Non-pathogenic
Disease	Phosphoenolpyruvate carboxykinase (GTP) deficiency
Variation	info
Gene	PCK1
CLNDBN	Phosphoenolpyruvate carboxykinase (GTP) deficiency
Reversed	0
HGVS	NC_000020.10:g.56137807A>G
CLNSRC
CLNACC	RCV000377987.1,