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rs72554644

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554644(A;A)
Make rs72554644(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78012885
GeneATP7A
is asnp
is mentioned by
dbSNPrs72554644
ebirs72554644
HLIrs72554644
Exacrs72554644
Varsomers72554644
Maprs72554644
PheGenIrs72554644
hapmaprs72554644
1000 genomesrs72554644
hgdprs72554644
ensemblrs72554644
gopubmedrs72554644
geneviewrs72554644
scholarrs72554644
googlers72554644
pharmgkbrs72554644
gwascentralrs72554644
openSNPrs72554644
23andMers72554644
23andMe allrs72554644
SNP Nexus

SNPshotrs72554644
SNPdbers72554644
MSV3drs72554644
GWAS Ctlgrs72554644
Max Magnitude0
ClinVar
Risk rs72554644(A,T;A,T)
Alt rs72554644(A,T;A,T)
Reference rs72554644(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268382G>A; NC_000023.10:g.77268382G>T
CLNSRC
CLNACC RCV000193991.1, RCV000195017.1,