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rs797045349

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045349(A;G)
Make rs797045349(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78012877
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045349
ebirs797045349
HLIrs797045349
Exacrs797045349
Varsomers797045349
Maprs797045349
PheGenIrs797045349
hapmaprs797045349
1000 genomesrs797045349
hgdprs797045349
ensemblrs797045349
gopubmedrs797045349
geneviewrs797045349
scholarrs797045349
googlers797045349
pharmgkbrs797045349
gwascentralrs797045349
openSNPrs797045349
23andMers797045349
23andMe allrs797045349
SNP Nexus

SNPshotrs797045349
SNPdbers797045349
MSV3drs797045349
GWAS Ctlgrs797045349
Max Magnitude0
ClinVar
Risk rs797045349(G;G)
Alt rs797045349(G;G)
Reference rs797045349(A;A)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268374A>G
CLNSRC
CLNACC RCV000192993.1,