rs137853247

Orientation

plus

Stabilized

plus

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)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120978860

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs137853247
dbSNP (classic)	rs137853247
ClinGen	rs137853247
ebi	rs137853247
HLI	rs137853247
Exac	rs137853247
Gnomad	rs137853247
Varsome	rs137853247
LitVar	rs137853247
Map	rs137853247
PheGenI	rs137853247
Biobank	rs137853247
1000 genomes	rs137853247
hgdp	rs137853247
ensembl	rs137853247
geneview	rs137853247
scholar	rs137853247
google	rs137853247
pharmgkb	rs137853247
gwascentral	rs137853247
openSNP	rs137853247
23andMe	rs137853247
SNPshot	rs137853247
SNPdbe	rs137853247
MSV3d	rs137853247
GWAS Ctlg	rs137853247

GMAF

0.0004591

Max Magnitude

2

OMIM	142410
Desc
Variant	0022
Related	also

ClinVar
Risk	rs137853247(A;A) rs137853247(C;C)
Alt	rs137853247(A;A) rs137853247(C;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,