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rs797045395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045395(-;A)
Make rs797045395(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78045478
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045395
ClinGenrs797045395
ebirs797045395
HLIrs797045395
Exacrs797045395
Varsomers797045395
Maprs797045395
PheGenIrs797045395
hapmaprs797045395
1000 genomesrs797045395
hgdprs797045395
ensemblrs797045395
gopubmedrs797045395
geneviewrs797045395
scholarrs797045395
googlers797045395
pharmgkbrs797045395
gwascentralrs797045395
openSNPrs797045395
23andMers797045395
23andMe allrs797045395
SNP Nexus

SNPshotrs797045395
SNPdbers797045395
MSV3drs797045395
GWAS Ctlgrs797045395
Max Magnitude0
ClinVar
Risk rs797045395(A;A)
Alt rs797045395(A;A)
Reference Rs797045395(-;-)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77300975dupA
CLNSRC
CLNACC RCV000192966.1,