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rs797045325

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045325(G;T)
Make rs797045325(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77989628
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045325
ebirs797045325
HLIrs797045325
Exacrs797045325
Varsomers797045325
Maprs797045325
PheGenIrs797045325
hapmaprs797045325
1000 genomesrs797045325
hgdprs797045325
ensemblrs797045325
gopubmedrs797045325
geneviewrs797045325
scholarrs797045325
googlers797045325
pharmgkbrs797045325
gwascentralrs797045325
openSNPrs797045325
23andMers797045325
23andMe allrs797045325
SNP Nexus

SNPshotrs797045325
SNPdbers797045325
MSV3drs797045325
GWAS Ctlgrs797045325
Max Magnitude0
ClinVar
Risk rs797045325(T;T)
Alt rs797045325(T;T)
Reference rs797045325(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.77245124G>T
CLNSRC
CLNACC RCV000194386.1,