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rs121907999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Wilson disease mutation
Make rs121907999(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51974355
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907999
dbSNP (classic)rs121907999
ClinGenrs121907999
ebirs121907999
HLIrs121907999
Exacrs121907999
Gnomadrs121907999
Varsomers121907999
LitVarrs121907999
Maprs121907999
PheGenIrs121907999
Biobankrs121907999
1000 genomesrs121907999
hgdprs121907999
ensemblrs121907999
geneviewrs121907999
scholarrs121907999
googlers121907999
pharmgkbrs121907999
gwascentralrs121907999
openSNPrs121907999
23andMers121907999
SNPshotrs121907999
SNPdbers121907999
MSV3drs121907999
GWAS Ctlgrs121907999
Max Magnitude3
OMIM606882
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121907999(T;T)
Alt rs121907999(T;T)
Reference Rs121907999(C;C)
Significance Other
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 1
HGVS NC_000013.10:g.52548491G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004068.6, RCV000421016.1,