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rs587776825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3.6 Maturity onset of diabetes of the young (type 3)
(D;D) 0 common genotype
Make rs587776825(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position120994322
GeneHNF1A
is asnp
is mentioned by
dbSNPrs587776825
dbSNP (classic)rs587776825
ClinGenrs587776825
ebirs587776825
HLIrs587776825
Exacrs587776825
Gnomadrs587776825
Varsomers587776825
LitVarrs587776825
Maprs587776825
PheGenIrs587776825
Biobankrs587776825
1000 genomesrs587776825
hgdprs587776825
ensemblrs587776825
geneviewrs587776825
scholarrs587776825
googlers587776825
pharmgkbrs587776825
gwascentralrs587776825
openSNPrs587776825
23andMers587776825
SNPshotrs587776825
SNPdbers587776825
MSV3drs587776825
GWAS Ctlgrs587776825
Max Magnitude3.6

aka c.872dupC


ClinVar
Risk rs587776825(C;C)
Alt rs587776825(C;C)
Reference Rs587776825(-;-)
Significance Pathogenic
Disease Maturity-onset diabetes of the young Clear cell carcinoma of kidney Diabetes mellitus Hepatic adenomas Diabetes mellitus type 1 not provided
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3 Clear cell carcinoma of kidney Diabetes mellitus, insulin-dependent, 20 Hepatic adenomas, familial Diabetes mellitus type 1 not provided
Reversed 0
HGVS NC_000012.11:g.121432125dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016062.26, RCV000016063.23, RCV000016064.23, RCV000022617.5, RCV000117225.1, RCV000490055.1,