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rs797045387

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045387(A;G)
Make rs797045387(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040737
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045387
ebirs797045387
HLIrs797045387
Exacrs797045387
Varsomers797045387
Maprs797045387
PheGenIrs797045387
hapmaprs797045387
1000 genomesrs797045387
hgdprs797045387
ensemblrs797045387
gopubmedrs797045387
geneviewrs797045387
scholarrs797045387
googlers797045387
pharmgkbrs797045387
gwascentralrs797045387
openSNPrs797045387
23andMers797045387
23andMe allrs797045387
SNP Nexus

SNPshotrs797045387
SNPdbers797045387
MSV3drs797045387
GWAS Ctlgrs797045387
Max Magnitude0
ClinVar
Risk rs797045387(G;G)
Alt rs797045387(G;G)
Reference rs797045387(A;A)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296235A>G
CLNSRC
CLNACC RCV000193334.1,