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rs1057517384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517384(-;GC)
Make rs1057517384(GC;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51974830
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517384
dbSNP (old)rs1057517384
ClinGenrs1057517384
ebirs1057517384
HLIrs1057517384
Exacrs1057517384
Gnomadrs1057517384
Varsomers1057517384
LitVarrs1057517384
Maprs1057517384
PheGenIrs1057517384
Biobankrs1057517384
1000 genomesrs1057517384
hgdprs1057517384
ensemblrs1057517384
gopubmedrs1057517384
geneviewrs1057517384
scholarrs1057517384
googlers1057517384
pharmgkbrs1057517384
gwascentralrs1057517384
openSNPrs1057517384
23andMers1057517384
23andMe allrs1057517384
SNPshotrs1057517384
SNPdbers1057517384
MSV3drs1057517384
GWAS Ctlgrs1057517384
Max Magnitude0
ClinVar
Risk rs1057517384(GC;GC)
Alt rs1057517384(GC;GC)
Reference Rs1057517384(-;-)
Significance Pathogenic
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 1
HGVS NC_000013.10:g.52548967_52548968dupGC
CLNSRC
CLNACC RCV000409526.1, RCV000489522.1,