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rs121908482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908482(A;A)
Make rs121908482(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position32862482
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs121908482
dbSNP (classic)rs121908482
ClinGenrs121908482
ebirs121908482
HLIrs121908482
Exacrs121908482
Gnomadrs121908482
Varsomers121908482
LitVarrs121908482
Maprs121908482
PheGenIrs121908482
Biobankrs121908482
1000 genomesrs121908482
hgdprs121908482
ensemblrs121908482
geneviewrs121908482
scholarrs121908482
googlers121908482
pharmgkbrs121908482
gwascentralrs121908482
openSNPrs121908482
23andMers121908482
SNPshotrs121908482
SNPdbers121908482
MSV3drs121908482
GWAS Ctlgrs121908482
Max Magnitude0
OMIM604144
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908482(A;A)
Alt rs121908482(A;A)
Reference Rs121908482(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 1
HGVS NC_000019.9:g.33353388C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006139.2,