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rs797045330

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045330(A;A)
Make rs797045330(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77998601
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045330
ebirs797045330
HLIrs797045330
Exacrs797045330
Varsomers797045330
Maprs797045330
PheGenIrs797045330
hapmaprs797045330
1000 genomesrs797045330
hgdprs797045330
ensemblrs797045330
gopubmedrs797045330
geneviewrs797045330
scholarrs797045330
googlers797045330
pharmgkbrs797045330
gwascentralrs797045330
openSNPrs797045330
23andMers797045330
23andMe allrs797045330
SNP Nexus

SNPshotrs797045330
SNPdbers797045330
MSV3drs797045330
GWAS Ctlgrs797045330
Max Magnitude0
ClinVar
Risk rs797045330(A;A)
Alt rs797045330(A;A)
Reference rs797045330(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.77254098C>A
CLNSRC
CLNACC RCV000194569.1,