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rs121907894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907894(G;T)
Make rs121907894(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64598579
GeneSLC22A12
is asnp
is mentioned by
dbSNPrs121907894
dbSNP (classic)rs121907894
ClinGenrs121907894
ebirs121907894
HLIrs121907894
Exacrs121907894
Gnomadrs121907894
Varsomers121907894
LitVarrs121907894
Maprs121907894
PheGenIrs121907894
Biobankrs121907894
1000 genomesrs121907894
hgdprs121907894
ensemblrs121907894
geneviewrs121907894
scholarrs121907894
googlers121907894
pharmgkbrs121907894
gwascentralrs121907894
openSNPrs121907894
23andMers121907894
SNPshotrs121907894
SNPdbers121907894
MSV3drs121907894
GWAS Ctlgrs121907894
Max Magnitude0
OMIM607096
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121907894(A;A) rs121907894(T;T)
Alt rs121907894(A;A) rs121907894(T;T)
Reference Rs121907894(G;G)
Significance Pathogenic
Disease Familial renal hypouricemia
Variation info
Gene SLC22A12
CLNDBN Familial renal hypouricemia
Reversed 0
HGVS NC_000011.9:g.64366051G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003691.3,