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rs72554650

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554650(C;T)
Make rs72554650(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78029289
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554650
ebirs72554650
HLIrs72554650
Exacrs72554650
Varsomers72554650
Maprs72554650
PheGenIrs72554650
hapmaprs72554650
1000 genomesrs72554650
hgdprs72554650
ensemblrs72554650
gopubmedrs72554650
geneviewrs72554650
scholarrs72554650
googlers72554650
pharmgkbrs72554650
gwascentralrs72554650
openSNPrs72554650
23andMers72554650
23andMe allrs72554650
SNP Nexus

SNPshotrs72554650
SNPdbers72554650
MSV3drs72554650
GWAS Ctlgrs72554650
Max Magnitude0
ClinVar
Risk rs72554650(T;T)
Alt rs72554650(T;T)
Reference rs72554650(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.77284786C>T
CLNSRC
CLNACC RCV000193405.1,