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rs797045370

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045370(G;G)
Make rs797045370(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031420
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045370
ebirs797045370
HLIrs797045370
Exacrs797045370
Varsomers797045370
Maprs797045370
PheGenIrs797045370
hapmaprs797045370
1000 genomesrs797045370
hgdprs797045370
ensemblrs797045370
gopubmedrs797045370
geneviewrs797045370
scholarrs797045370
googlers797045370
pharmgkbrs797045370
gwascentralrs797045370
openSNPrs797045370
23andMers797045370
23andMe allrs797045370
SNP Nexus

SNPshotrs797045370
SNPdbers797045370
MSV3drs797045370
GWAS Ctlgrs797045370
Max Magnitude0
ClinVar
Risk rs797045370(G;G)
Alt rs797045370(G;G)
Reference rs797045370(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77286918T>G
CLNSRC
CLNACC RCV000194489.1,