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rs121912693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912693(C;C)
Make rs121912693(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position44320614
GenePREPL, SLC3A1
is asnp
is mentioned by
dbSNPrs121912693
ebirs121912693
HLIrs121912693
Exacrs121912693
Varsomers121912693
Maprs121912693
PheGenIrs121912693
hapmaprs121912693
1000 genomesrs121912693
hgdprs121912693
ensemblrs121912693
gopubmedrs121912693
geneviewrs121912693
scholarrs121912693
googlers121912693
pharmgkbrs121912693
gwascentralrs121912693
openSNPrs121912693
23andMers121912693
23andMe allrs121912693
SNP Nexus

SNPshotrs121912693
SNPdbers121912693
MSV3drs121912693
GWAS Ctlgrs121912693
Max Magnitude0
OMIM104614
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912693(C;C)
Alt rs121912693(C;C)
Reference Rs121912693(T;T)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene PREPL SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44547753T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019745.28,