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rs121912695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912695(C;G)
Make rs121912695(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44320536
GenePREPL, SLC3A1
is asnp
is mentioned by
dbSNPrs121912695
ebirs121912695
HLIrs121912695
Exacrs121912695
Varsomers121912695
Maprs121912695
PheGenIrs121912695
hapmaprs121912695
1000 genomesrs121912695
hgdprs121912695
ensemblrs121912695
gopubmedrs121912695
geneviewrs121912695
scholarrs121912695
googlers121912695
pharmgkbrs121912695
gwascentralrs121912695
openSNPrs121912695
23andMers121912695
23andMe allrs121912695
SNP Nexus

SNPshotrs121912695
SNPdbers121912695
MSV3drs121912695
GWAS Ctlgrs121912695
Max Magnitude0
OMIM104614
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912695(G,T;G,T)
Alt rs121912695(G,T;G,T)
Reference rs121912695(C;C)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene PREPL SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44547675C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019747.27,