Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912691(C;C)
Make rs121912691(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position44312653
GeneSLC3A1
is asnp
is mentioned by
dbSNPrs121912691
ebirs121912691
HLIrs121912691
Exacrs121912691
Varsomers121912691
Maprs121912691
PheGenIrs121912691
hapmaprs121912691
1000 genomesrs121912691
hgdprs121912691
ensemblrs121912691
gopubmedrs121912691
geneviewrs121912691
scholarrs121912691
googlers121912691
pharmgkbrs121912691
gwascentralrs121912691
openSNPrs121912691
23andMers121912691
23andMe allrs121912691
SNP Nexus

SNPshotrs121912691
SNPdbers121912691
MSV3drs121912691
GWAS Ctlgrs121912691
Merged fromRs121912692
Max Magnitude0
OMIM104614
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912691(A,C;A,C)
Alt rs121912691(A,C;A,C)
Reference rs121912691(T;T)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44539792T>A; NC_000002.11:g.44539792T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019744.27, RCV000019743.27,