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rs72554645

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554645(C;T)
Make rs72554645(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78013089
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554645
ebirs72554645
HLIrs72554645
Exacrs72554645
Varsomers72554645
Maprs72554645
PheGenIrs72554645
hapmaprs72554645
1000 genomesrs72554645
hgdprs72554645
ensemblrs72554645
gopubmedrs72554645
geneviewrs72554645
scholarrs72554645
googlers72554645
pharmgkbrs72554645
gwascentralrs72554645
openSNPrs72554645
23andMers72554645
23andMe allrs72554645
SNP Nexus

SNPshotrs72554645
SNPdbers72554645
MSV3drs72554645
GWAS Ctlgrs72554645
Max Magnitude0
ClinVar
Risk rs72554645(T;T)
Alt rs72554645(T;T)
Reference rs72554645(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.77268586C>T
CLNSRC
CLNACC RCV000193280.1,