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rs137853247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 associated with MODY3; maturity onset of diabetes in the young (type 3)
(G;G) 0 common in clinvar


Make rs137853247(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position120978860
GeneHNF1A
is asnp
is mentioned by
dbSNPrs137853247
ebirs137853247
HLIrs137853247
Exacrs137853247
Varsomers137853247
Maprs137853247
PheGenIrs137853247
hapmaprs137853247
1000 genomesrs137853247
hgdprs137853247
ensemblrs137853247
gopubmedrs137853247
geneviewrs137853247
scholarrs137853247
googlers137853247
pharmgkbrs137853247
gwascentralrs137853247
openSNPrs137853247
23andMers137853247
23andMe allrs137853247
SNP Nexus

SNPshotrs137853247
SNPdbers137853247
MSV3drs137853247
GWAS Ctlgrs137853247
GMAF0.0004591
Max Magnitude2
OMIM142410
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137853247(A,C;A,C)
Alt rs137853247(A,C;A,C)
Reference rs137853247(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young Clear cell carcinoma of kidney Chromophobe renal cell carcinoma
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3 Clear cell carcinoma of kidney Chromophobe renal cell carcinoma
Reversed 0
HGVS NC_000012.11:g.121416663G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016086.23, RCV000016087.22, RCV000016088.23,