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

rs797045357

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045357(A;A)
Make rs797045357(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78014755
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045357
ebirs797045357
HLIrs797045357
Exacrs797045357
Varsomers797045357
Maprs797045357
PheGenIrs797045357
hapmaprs797045357
1000 genomesrs797045357
hgdprs797045357
ensemblrs797045357
gopubmedrs797045357
geneviewrs797045357
scholarrs797045357
googlers797045357
pharmgkbrs797045357
gwascentralrs797045357
openSNPrs797045357
23andMers797045357
23andMe allrs797045357
SNP Nexus

SNPshotrs797045357
SNPdbers797045357
MSV3drs797045357
GWAS Ctlgrs797045357
Max Magnitude0
ClinVar
Risk rs797045357(A;A)
Alt rs797045357(A;A)
Reference rs797045357(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77270252T>A
CLNSRC
CLNACC RCV000194674.1,