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rs201497300

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201497300(C;T)
Make rs201497300(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51946337
GeneATP7B
is asnp
is mentioned by
dbSNPrs201497300
ebirs201497300
HLIrs201497300
Exacrs201497300
Varsomers201497300
Maprs201497300
PheGenIrs201497300
hapmaprs201497300
1000 genomesrs201497300
hgdprs201497300
ensemblrs201497300
gopubmedrs201497300
geneviewrs201497300
scholarrs201497300
googlers201497300
pharmgkbrs201497300
gwascentralrs201497300
openSNPrs201497300
23andMers201497300
23andMe allrs201497300
SNP Nexus

SNPshotrs201497300
SNPdbers201497300
MSV3drs201497300
GWAS Ctlgrs201497300
Max Magnitude0
ClinVar
Risk rs201497300(T;T)
Alt rs201497300(T;T)
Reference rs201497300(C;C)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 0
HGVS NC_000013.10:g.52520473C>T
CLNSRC
CLNACC RCV000169133.1,