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

rs72554640

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554640(C;T)
Make rs72554640(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011239
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554640
ebirs72554640
HLIrs72554640
Exacrs72554640
Varsomers72554640
Maprs72554640
PheGenIrs72554640
hapmaprs72554640
1000 genomesrs72554640
hgdprs72554640
ensemblrs72554640
gopubmedrs72554640
geneviewrs72554640
scholarrs72554640
googlers72554640
pharmgkbrs72554640
gwascentralrs72554640
openSNPrs72554640
23andMers72554640
23andMe allrs72554640
SNP Nexus

SNPshotrs72554640
SNPdbers72554640
MSV3drs72554640
GWAS Ctlgrs72554640
Max Magnitude0
ClinVar
Risk rs72554640(T;T)
Alt rs72554640(T;T)
Reference rs72554640(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.77266736C>T
CLNSRC
CLNACC RCV000193235.1,