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rs121912692

From SNPedia

Merged intors121912691
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912692(A;A)
Make rs121912692(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position44312653
GeneSLC3A1
is asnp
is mentioned by
dbSNPrs121912692
ebirs121912692
HLIrs121912692
Exacrs121912692
Varsomers121912692
Maprs121912692
PheGenIrs121912692
hapmaprs121912692
1000 genomesrs121912692
hgdprs121912692
ensemblrs121912692
gopubmedrs121912692
geneviewrs121912692
scholarrs121912692
googlers121912692
pharmgkbrs121912692
gwascentralrs121912692
openSNPrs121912692
23andMers121912692
23andMe allrs121912692
SNP Nexus

SNPshotrs121912692
SNPdbers121912692
MSV3drs121912692
GWAS Ctlgrs121912692
StatusMerged into rs121912691
Max Magnitude0
OMIM104614
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912692(A;A)
Alt rs121912692(A;A)
Reference rs121912692(T;T)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44539792T>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000040042.1,