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rs121908483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908483(A;A)
Make rs121908483(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position32859939
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs121908483
dbSNP (classic)rs121908483
ClinGenrs121908483
ebirs121908483
HLIrs121908483
Exacrs121908483
Gnomadrs121908483
Varsomers121908483
LitVarrs121908483
Maprs121908483
PheGenIrs121908483
Biobankrs121908483
1000 genomesrs121908483
hgdprs121908483
ensemblrs121908483
geneviewrs121908483
scholarrs121908483
googlers121908483
pharmgkbrs121908483
gwascentralrs121908483
openSNPrs121908483
23andMers121908483
SNPshotrs121908483
SNPdbers121908483
MSV3drs121908483
GWAS Ctlgrs121908483
Max Magnitude0
OMIM604144
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908483(A;A)
Alt rs121908483(A;A)
Reference Rs121908483(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 1
HGVS NC_000019.9:g.33350845C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006140.3,