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rs151344538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151344538(C;G)
Make rs151344538(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position120996361
GeneHNF1A
is asnp
is mentioned by
dbSNPrs151344538
ebirs151344538
HLIrs151344538
Exacrs151344538
Varsomers151344538
Maprs151344538
PheGenIrs151344538
hapmaprs151344538
1000 genomesrs151344538
hgdprs151344538
ensemblrs151344538
gopubmedrs151344538
geneviewrs151344538
scholarrs151344538
googlers151344538
pharmgkbrs151344538
gwascentralrs151344538
openSNPrs151344538
23andMers151344538
23andMe allrs151344538
SNP Nexus

SNPshotrs151344538
SNPdbers151344538
MSV3drs151344538
GWAS Ctlgrs151344538
Max Magnitude0
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 19794065OA-icon.png] Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.