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rs72554639

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554639(C;C)
Make rs72554639(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011191
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554639
ebirs72554639
HLIrs72554639
Exacrs72554639
Varsomers72554639
Maprs72554639
PheGenIrs72554639
hapmaprs72554639
1000 genomesrs72554639
hgdprs72554639
ensemblrs72554639
gopubmedrs72554639
geneviewrs72554639
scholarrs72554639
googlers72554639
pharmgkbrs72554639
gwascentralrs72554639
openSNPrs72554639
23andMers72554639
23andMe allrs72554639
SNP Nexus

SNPshotrs72554639
SNPdbers72554639
MSV3drs72554639
GWAS Ctlgrs72554639
Max Magnitude0
ClinVar
Risk rs72554639(C;C)
Alt rs72554639(C;C)
Reference rs72554639(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.77266688G>C
CLNSRC
CLNACC RCV000194213.1,