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rs797045344

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045344(A;A)
Make rs797045344(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011498
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045344
ebirs797045344
HLIrs797045344
Exacrs797045344
Varsomers797045344
Maprs797045344
PheGenIrs797045344
hapmaprs797045344
1000 genomesrs797045344
hgdprs797045344
ensemblrs797045344
gopubmedrs797045344
geneviewrs797045344
scholarrs797045344
googlers797045344
pharmgkbrs797045344
gwascentralrs797045344
openSNPrs797045344
23andMers797045344
23andMe allrs797045344
SNP Nexus

SNPshotrs797045344
SNPdbers797045344
MSV3drs797045344
GWAS Ctlgrs797045344
Max Magnitude0
ClinVar
Risk rs797045344(A,C;A,C)
Alt rs797045344(A,C;A,C)
Reference rs797045344(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.77266995G>A; NC_000023.10:g.77266995G>C
CLNSRC
CLNACC RCV000193497.1, RCV000194915.1,