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rs137853338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 2 associated with MODY1; maturity onset of diabetes in the young (type 1)
(T;T) 0 common in clinvar


Make rs137853338(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44424243
GeneHNF4A
is asnp
is mentioned by
dbSNPrs137853338
dbSNP (classic)rs137853338
ClinGenrs137853338
ebirs137853338
HLIrs137853338
Exacrs137853338
Gnomadrs137853338
Varsomers137853338
LitVarrs137853338
Maprs137853338
PheGenIrs137853338
Biobankrs137853338
1000 genomesrs137853338
hgdprs137853338
ensemblrs137853338
geneviewrs137853338
scholarrs137853338
googlers137853338
pharmgkbrs137853338
gwascentralrs137853338
openSNPrs137853338
23andMers137853338
SNPshotrs137853338
SNPdbers137853338
MSV3drs137853338
GWAS Ctlgrs137853338
Max Magnitude2
OMIM600281
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853338(G;G)
Alt rs137853338(G;G)
Reference Rs137853338(T;T)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene HNF4A
CLNDBN Maturity-onset diabetes of the young, type 1
Reversed 0
HGVS NC_000020.10:g.43052883T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009796.4,