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rs797045377

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045377(G;T)
Make rs797045377(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78033689
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045377
ebirs797045377
HLIrs797045377
Exacrs797045377
Varsomers797045377
Maprs797045377
PheGenIrs797045377
hapmaprs797045377
1000 genomesrs797045377
hgdprs797045377
ensemblrs797045377
gopubmedrs797045377
geneviewrs797045377
scholarrs797045377
googlers797045377
pharmgkbrs797045377
gwascentralrs797045377
openSNPrs797045377
23andMers797045377
23andMe allrs797045377
SNP Nexus

SNPshotrs797045377
SNPdbers797045377
MSV3drs797045377
GWAS Ctlgrs797045377
Max Magnitude0
ClinVar
Risk rs797045377(T;T)
Alt rs797045377(T;T)
Reference rs797045377(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.77289187G>T
CLNSRC
CLNACC RCV000192748.1,