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rs797045400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045400(-;-)
Make rs797045400(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77989498
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045400
dbSNP (classic)rs797045400
ClinGenrs797045400
ebirs797045400
HLIrs797045400
Exacrs797045400
Gnomadrs797045400
Varsomers797045400
LitVarrs797045400
Maprs797045400
PheGenIrs797045400
Biobankrs797045400
1000 genomesrs797045400
hgdprs797045400
ensemblrs797045400
geneviewrs797045400
scholarrs797045400
googlers797045400
pharmgkbrs797045400
gwascentralrs797045400
openSNPrs797045400
23andMers797045400
SNPshotrs797045400
SNPdbers797045400
MSV3drs797045400
GWAS Ctlgrs797045400
Max Magnitude0
ClinVar
Risk rs797045400(-;-)
Alt rs797045400(-;-)
Reference Rs797045400(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77244994delG
CLNSRC
CLNACC RCV000193287.1,