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rs797045367

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045367(A;A)
Make rs797045367(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031399
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045367
ebirs797045367
HLIrs797045367
Exacrs797045367
Varsomers797045367
Maprs797045367
PheGenIrs797045367
hapmaprs797045367
1000 genomesrs797045367
hgdprs797045367
ensemblrs797045367
gopubmedrs797045367
geneviewrs797045367
scholarrs797045367
googlers797045367
pharmgkbrs797045367
gwascentralrs797045367
openSNPrs797045367
23andMers797045367
23andMe allrs797045367
SNP Nexus

SNPshotrs797045367
SNPdbers797045367
MSV3drs797045367
GWAS Ctlgrs797045367
Max Magnitude0
ClinVar
Risk rs797045367(A;A)
Alt rs797045367(A;A)
Reference rs797045367(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.77286897G>A
CLNSRC
CLNACC RCV000194513.1,