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rs79987078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79987078(A;A)
Make rs79987078(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position32864206
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs79987078
dbSNP (classic)rs79987078
ClinGenrs79987078
ebirs79987078
HLIrs79987078
Exacrs79987078
Gnomadrs79987078
Varsomers79987078
LitVarrs79987078
Maprs79987078
PheGenIrs79987078
Biobankrs79987078
1000 genomesrs79987078
hgdprs79987078
ensemblrs79987078
geneviewrs79987078
scholarrs79987078
googlers79987078
pharmgkbrs79987078
gwascentralrs79987078
openSNPrs79987078
23andMers79987078
SNPshotrs79987078
SNPdbers79987078
MSV3drs79987078
GWAS Ctlgrs79987078
GMAF0.0004591
Max Magnitude0
OMIM604144
Desc
Variant0014
Relatedalso
ClinVar
Risk rs79987078(A;A)
Alt rs79987078(A;A)
Reference Rs79987078(G;G)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC7A9
CLNDBN Cystinuria
Reversed 0
HGVS NC_000019.9:g.33355112G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006149.3,