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rs121908479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908479(A;A)
Make rs121908479(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position32862557
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs121908479
dbSNP (classic)rs121908479
ClinGenrs121908479
ebirs121908479
HLIrs121908479
Exacrs121908479
Gnomadrs121908479
Varsomers121908479
LitVarrs121908479
Maprs121908479
PheGenIrs121908479
Biobankrs121908479
1000 genomesrs121908479
hgdprs121908479
ensemblrs121908479
geneviewrs121908479
scholarrs121908479
googlers121908479
pharmgkbrs121908479
gwascentralrs121908479
openSNPrs121908479
23andMers121908479
SNPshotrs121908479
SNPdbers121908479
MSV3drs121908479
GWAS Ctlgrs121908479
Max Magnitude0
OMIM604144
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908479(A;A)
Alt rs121908479(A;A)
Reference Rs121908479(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 1
HGVS NC_000019.9:g.33353463C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006136.2,