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rs72554636

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554636(C;T)
Make rs72554636(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77989847
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554636
ebirs72554636
HLIrs72554636
Exacrs72554636
Varsomers72554636
Maprs72554636
PheGenIrs72554636
hapmaprs72554636
1000 genomesrs72554636
hgdprs72554636
ensemblrs72554636
gopubmedrs72554636
geneviewrs72554636
scholarrs72554636
googlers72554636
pharmgkbrs72554636
gwascentralrs72554636
openSNPrs72554636
23andMers72554636
23andMe allrs72554636
SNP Nexus

SNPshotrs72554636
SNPdbers72554636
MSV3drs72554636
GWAS Ctlgrs72554636
Max Magnitude0
ClinVar
Risk rs72554636(T;T)
Alt rs72554636(T;T)
Reference rs72554636(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.77245343C>T
CLNSRC
CLNACC RCV000194461.1,