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rs797045336

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045336(C;G)
Make rs797045336(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78009176
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045336
ebirs797045336
HLIrs797045336
Exacrs797045336
Varsomers797045336
Maprs797045336
PheGenIrs797045336
hapmaprs797045336
1000 genomesrs797045336
hgdprs797045336
ensemblrs797045336
gopubmedrs797045336
geneviewrs797045336
scholarrs797045336
googlers797045336
pharmgkbrs797045336
gwascentralrs797045336
openSNPrs797045336
23andMers797045336
23andMe allrs797045336
SNP Nexus

SNPshotrs797045336
SNPdbers797045336
MSV3drs797045336
GWAS Ctlgrs797045336
Max Magnitude0
ClinVar
Risk rs797045336(G;G)
Alt rs797045336(G;G)
Reference rs797045336(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.77264673C>G
CLNSRC
CLNACC RCV000192830.1,