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rs797045360

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045360(C;T)
Make rs797045360(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78015810
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045360
ebirs797045360
HLIrs797045360
Exacrs797045360
Varsomers797045360
Maprs797045360
PheGenIrs797045360
hapmaprs797045360
1000 genomesrs797045360
hgdprs797045360
ensemblrs797045360
gopubmedrs797045360
geneviewrs797045360
scholarrs797045360
googlers797045360
pharmgkbrs797045360
gwascentralrs797045360
openSNPrs797045360
23andMers797045360
23andMe allrs797045360
SNP Nexus

SNPshotrs797045360
SNPdbers797045360
MSV3drs797045360
GWAS Ctlgrs797045360
Max Magnitude0
ClinVar
Risk rs797045360(T;T)
Alt rs797045360(T;T)
Reference rs797045360(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.77271307C>T
CLNSRC
CLNACC RCV000194783.1,