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rs797045332

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045332(C;T)
Make rs797045332(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78003168
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045332
ebirs797045332
HLIrs797045332
Exacrs797045332
Varsomers797045332
Maprs797045332
PheGenIrs797045332
hapmaprs797045332
1000 genomesrs797045332
hgdprs797045332
ensemblrs797045332
gopubmedrs797045332
geneviewrs797045332
scholarrs797045332
googlers797045332
pharmgkbrs797045332
gwascentralrs797045332
openSNPrs797045332
23andMers797045332
23andMe allrs797045332
SNP Nexus

SNPshotrs797045332
SNPdbers797045332
MSV3drs797045332
GWAS Ctlgrs797045332
Max Magnitude0
ClinVar
Risk rs797045332(T;T)
Alt rs797045332(T;T)
Reference rs797045332(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77258665C>T
CLNSRC
CLNACC RCV000194736.1,