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rs121908480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908480(A;A)
Make rs121908480(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position32864261
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs121908480
dbSNP (classic)rs121908480
ClinGenrs121908480
ebirs121908480
HLIrs121908480
Exacrs121908480
Gnomadrs121908480
Varsomers121908480
LitVarrs121908480
Maprs121908480
PheGenIrs121908480
Biobankrs121908480
1000 genomesrs121908480
hgdprs121908480
ensemblrs121908480
geneviewrs121908480
scholarrs121908480
googlers121908480
pharmgkbrs121908480
gwascentralrs121908480
openSNPrs121908480
23andMers121908480
SNPshotrs121908480
SNPdbers121908480
MSV3drs121908480
GWAS Ctlgrs121908480
GMAF0.001377
Max Magnitude0
OMIM604144
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908480(A;A)
Alt rs121908480(A;A)
Reference Rs121908480(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 1
HGVS NC_000019.9:g.33355167C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006137.3,