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rs121908485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908485(C;C)
Make rs121908485(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position32864733
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs121908485
dbSNP (classic)rs121908485
ClinGenrs121908485
ebirs121908485
HLIrs121908485
Exacrs121908485
Gnomadrs121908485
Varsomers121908485
LitVarrs121908485
Maprs121908485
PheGenIrs121908485
Biobankrs121908485
1000 genomesrs121908485
hgdprs121908485
ensemblrs121908485
geneviewrs121908485
scholarrs121908485
googlers121908485
pharmgkbrs121908485
gwascentralrs121908485
openSNPrs121908485
23andMers121908485
SNPshotrs121908485
SNPdbers121908485
MSV3drs121908485
GWAS Ctlgrs121908485
Max Magnitude0
OMIM604144
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908485(C;C)
Alt rs121908485(C;C)
Reference Rs121908485(T;T)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 1
HGVS NC_000019.9:g.33355639A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006144.3,