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rs794729231

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729231(A;A)
Make rs794729231(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011448
GeneATP7A
is asnp
is mentioned by
dbSNPrs794729231
ebirs794729231
HLIrs794729231
Exacrs794729231
Varsomers794729231
Maprs794729231
PheGenIrs794729231
hapmaprs794729231
1000 genomesrs794729231
hgdprs794729231
ensemblrs794729231
gopubmedrs794729231
geneviewrs794729231
scholarrs794729231
googlers794729231
pharmgkbrs794729231
gwascentralrs794729231
openSNPrs794729231
23andMers794729231
23andMe allrs794729231
SNP Nexus

SNPshotrs794729231
SNPdbers794729231
MSV3drs794729231
GWAS Ctlgrs794729231
Max Magnitude0
ClinVar
Risk rs794729231(A;A)
Alt rs794729231(A;A)
Reference rs794729231(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.77266945G>A; NC_000023.10:g.77266945G>C
CLNSRC
CLNACC RCV000184052.1, RCV000193718.1,