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rs797045348

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045348(G;T)
Make rs797045348(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011674
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045348
ebirs797045348
HLIrs797045348
Exacrs797045348
Varsomers797045348
Maprs797045348
PheGenIrs797045348
hapmaprs797045348
1000 genomesrs797045348
hgdprs797045348
ensemblrs797045348
gopubmedrs797045348
geneviewrs797045348
scholarrs797045348
googlers797045348
pharmgkbrs797045348
gwascentralrs797045348
openSNPrs797045348
23andMers797045348
23andMe allrs797045348
SNP Nexus

SNPshotrs797045348
SNPdbers797045348
MSV3drs797045348
GWAS Ctlgrs797045348
Max Magnitude0
ClinVar
Risk rs797045348(T;T)
Alt rs797045348(T;T)
Reference rs797045348(G;G)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77267171G>T
CLNSRC
CLNACC RCV000194586.1,