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rs121912696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912696(A;A)
Make rs121912696(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position44320424
GenePREPL, SLC3A1
is asnp
is mentioned by
dbSNPrs121912696
ebirs121912696
HLIrs121912696
Exacrs121912696
Varsomers121912696
Maprs121912696
PheGenIrs121912696
hapmaprs121912696
1000 genomesrs121912696
hgdprs121912696
ensemblrs121912696
gopubmedrs121912696
geneviewrs121912696
scholarrs121912696
googlers121912696
pharmgkbrs121912696
gwascentralrs121912696
openSNPrs121912696
23andMers121912696
23andMe allrs121912696
SNP Nexus

SNPshotrs121912696
SNPdbers121912696
MSV3drs121912696
GWAS Ctlgrs121912696
Max Magnitude0
OMIM104614
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912696(A;A)
Alt rs121912696(A;A)
Reference rs121912696(C;C)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene PREPL SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44547563C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019748.27,