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rs121964849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964849(A;G)
Make rs121964849(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6869741
GeneTPI1
is asnp
is mentioned by
dbSNPrs121964849
ebirs121964849
HLIrs121964849
Exacrs121964849
Varsomers121964849
Maprs121964849
PheGenIrs121964849
hapmaprs121964849
1000 genomesrs121964849
hgdprs121964849
ensemblrs121964849
gopubmedrs121964849
geneviewrs121964849
scholarrs121964849
googlers121964849
pharmgkbrs121964849
gwascentralrs121964849
openSNPrs121964849
23andMers121964849
23andMe allrs121964849
SNP Nexus

SNPshotrs121964849
SNPdbers121964849
MSV3drs121964849
GWAS Ctlgrs121964849
Max Magnitude0
OMIM190450
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964849(G;G)
Alt rs121964849(G;G)
Reference rs121964849(A;A)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6978905A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013290.24,