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rs797045389

From SNPedia

Orientationplus
Make rs797045389(-;-)
Make rs797045389(-;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78042703
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045389
ebirs797045389
HLIrs797045389
Exacrs797045389
Varsomers797045389
Maprs797045389
PheGenIrs797045389
hapmaprs797045389
1000 genomesrs797045389
hgdprs797045389
ensemblrs797045389
gopubmedrs797045389
geneviewrs797045389
scholarrs797045389
googlers797045389
pharmgkbrs797045389
gwascentralrs797045389
openSNPrs797045389
23andMers797045389
23andMe allrs797045389
SNP Nexus

SNPshotrs797045389
SNPdbers797045389
MSV3drs797045389
GWAS Ctlgrs797045389
Max Magnitude
ClinVar
Risk rs797045389(;)
Alt rs797045389(;)
Reference rs797045389(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.77298201delC
CLNSRC
CLNACC RCV000193484.1,