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rs797045399

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045399(C;T)
Make rs797045399(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77988719
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045399
ebirs797045399
HLIrs797045399
Exacrs797045399
Varsomers797045399
Maprs797045399
PheGenIrs797045399
hapmaprs797045399
1000 genomesrs797045399
hgdprs797045399
ensemblrs797045399
gopubmedrs797045399
geneviewrs797045399
scholarrs797045399
googlers797045399
pharmgkbrs797045399
gwascentralrs797045399
openSNPrs797045399
23andMers797045399
23andMe allrs797045399
SNP Nexus

SNPshotrs797045399
SNPdbers797045399
MSV3drs797045399
GWAS Ctlgrs797045399
Max Magnitude0
ClinVar
Risk rs797045399(T;T)
Alt rs797045399(T;T)
Reference rs797045399(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.77244215C>T
CLNSRC
CLNACC RCV000194247.1,