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rs1057517444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAC;AAAC) 0 common in clinvar
Make rs1057517444(-;-)
Make rs1057517444(-;AAAC)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51970692
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517444
dbSNP (old)rs1057517444
ClinGenrs1057517444
ebirs1057517444
HLIrs1057517444
Exacrs1057517444
Gnomadrs1057517444
Varsomers1057517444
Maprs1057517444
PheGenIrs1057517444
Biobankrs1057517444
1000 genomesrs1057517444
hgdprs1057517444
ensemblrs1057517444
gopubmedrs1057517444
geneviewrs1057517444
scholarrs1057517444
googlers1057517444
pharmgkbrs1057517444
gwascentralrs1057517444
openSNPrs1057517444
23andMers1057517444
23andMe allrs1057517444
SNPshotrs1057517444
SNPdbers1057517444
MSV3drs1057517444
GWAS Ctlgrs1057517444
Max Magnitude0
ClinVar
Risk rs1057517444(-;-)
Alt rs1057517444(-;-)
Reference Rs1057517444(AAAC;AAAC)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52544828_52544831delGTTT
CLNSRC
CLNACC RCV000412377.1,