Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045394

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045394(A;A)
Make rs797045394(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78043434
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045394
ebirs797045394
HLIrs797045394
Exacrs797045394
Varsomers797045394
Maprs797045394
PheGenIrs797045394
hapmaprs797045394
1000 genomesrs797045394
hgdprs797045394
ensemblrs797045394
gopubmedrs797045394
geneviewrs797045394
scholarrs797045394
googlers797045394
pharmgkbrs797045394
gwascentralrs797045394
openSNPrs797045394
23andMers797045394
23andMe allrs797045394
SNP Nexus

SNPshotrs797045394
SNPdbers797045394
MSV3drs797045394
GWAS Ctlgrs797045394
Max Magnitude0
ClinVar
Risk rs797045394(A;A)
Alt rs797045394(A;A)
Reference rs797045394(G;G)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77298932G>A
CLNSRC
CLNACC RCV000194717.1,