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

rs797045396

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045396(C;T)
Make rs797045396(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78045533
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045396
ebirs797045396
HLIrs797045396
Exacrs797045396
Varsomers797045396
Maprs797045396
PheGenIrs797045396
hapmaprs797045396
1000 genomesrs797045396
hgdprs797045396
ensemblrs797045396
gopubmedrs797045396
geneviewrs797045396
scholarrs797045396
googlers797045396
pharmgkbrs797045396
gwascentralrs797045396
openSNPrs797045396
23andMers797045396
23andMe allrs797045396
SNP Nexus

SNPshotrs797045396
SNPdbers797045396
MSV3drs797045396
GWAS Ctlgrs797045396
Max Magnitude0
ClinVar
Risk rs797045396(T;T)
Alt rs797045396(T;T)
Reference rs797045396(C;C)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77301030C>T
CLNSRC
CLNACC RCV000194001.1,