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rs121912694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912694(A;A)
Make rs121912694(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44280827
GeneSLC3A1
is asnp
is mentioned by
dbSNPrs121912694
ebirs121912694
HLIrs121912694
Exacrs121912694
Varsomers121912694
Maprs121912694
PheGenIrs121912694
hapmaprs121912694
1000 genomesrs121912694
hgdprs121912694
ensemblrs121912694
gopubmedrs121912694
geneviewrs121912694
scholarrs121912694
googlers121912694
pharmgkbrs121912694
gwascentralrs121912694
openSNPrs121912694
23andMers121912694
23andMe allrs121912694
SNP Nexus

SNPshotrs121912694
SNPdbers121912694
MSV3drs121912694
GWAS Ctlgrs121912694
Max Magnitude0
OMIM104614
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912694(A,T;A,T)
Alt rs121912694(A,T;A,T)
Reference rs121912694(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44507966G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019746.26,