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rs121434581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434581(A;A)
Make rs121434581(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7285729
GeneSLC2A4
is asnp
is mentioned by
dbSNPrs121434581
ebirs121434581
HLIrs121434581
Exacrs121434581
Varsomers121434581
Maprs121434581
PheGenIrs121434581
hapmaprs121434581
1000 genomesrs121434581
hgdprs121434581
ensemblrs121434581
gopubmedrs121434581
geneviewrs121434581
scholarrs121434581
googlers121434581
pharmgkbrs121434581
gwascentralrs121434581
openSNPrs121434581
23andMers121434581
23andMe allrs121434581
SNP Nexus

SNPshotrs121434581
SNPdbers121434581
MSV3drs121434581
GWAS Ctlgrs121434581
GMAF0.003214
Max Magnitude0
OMIM138190
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434581(A,C;A,C)
Alt rs121434581(A,C;A,C)
Reference rs121434581(G;G)
Significance Pathogenic
Disease Diabetes mellitus type 2
Variation info
Gene SLC2A4
CLNDBN Diabetes mellitus type 2
Reversed 0
HGVS NC_000017.10:g.7189048G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017469.28,


GET Evidence
SLC2A4-V383I
aa_change Val383Ile
aa_change_short V383I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00427589
summary