rs151344538

Orientation

plus

Stabilized

plus

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

Make rs151344538(C;G)

Make rs151344538(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120996361

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs151344538
dbSNP (classic)	rs151344538
ClinGen	rs151344538
ebi	rs151344538
HLI	rs151344538
Exac	rs151344538
Gnomad	rs151344538
Varsome	rs151344538
LitVar	rs151344538
Map	rs151344538
PheGenI	rs151344538
Biobank	rs151344538
1000 genomes	rs151344538
hgdp	rs151344538
ensembl	rs151344538
geneview	rs151344538
scholar	rs151344538
google	rs151344538
pharmgkb	rs151344538
gwascentral	rs151344538
openSNP	rs151344538
23andMe	rs151344538
SNPshot	rs151344538
SNPdbe	rs151344538
MSV3d	rs151344538
GWAS Ctlg	rs151344538

Max Magnitude

0

ClinVar
Risk	rs151344538(G;G)
Alt	rs151344538(G;G)
Reference	Rs151344538(C;C)
Significance	Untested
Disease	Distal spinal muscular atrophy
Variation	info
Gene	HNF1A
CLNDBN	Distal spinal muscular atrophy, autosomal recessive 4
Reversed	0
HGVS	NC_000012.11:g.121434164C>G
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000021224.1, SCV000021224.1, SCV000021224.1, SCV000021224.1,

[PMID 19794065] Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.