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rs121912697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912697(A;A)
Make rs121912697(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44301076
GeneSLC3A1
is asnp
is mentioned by
dbSNPrs121912697
ebirs121912697
HLIrs121912697
Exacrs121912697
Varsomers121912697
Maprs121912697
PheGenIrs121912697
hapmaprs121912697
1000 genomesrs121912697
hgdprs121912697
ensemblrs121912697
gopubmedrs121912697
geneviewrs121912697
scholarrs121912697
googlers121912697
pharmgkbrs121912697
gwascentralrs121912697
openSNPrs121912697
23andMers121912697
23andMe allrs121912697
SNP Nexus

SNPshotrs121912697
SNPdbers121912697
MSV3drs121912697
GWAS Ctlgrs121912697
Max Magnitude0
OMIM104614
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912697(A;A)
Alt rs121912697(A;A)
Reference rs121912697(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44528215G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019750.27,