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rs797045353

From SNPedia

Orientationplus
Make rs797045353(-;-)
Make rs797045353(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78013008
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045353
ebirs797045353
HLIrs797045353
Exacrs797045353
Varsomers797045353
Maprs797045353
PheGenIrs797045353
hapmaprs797045353
1000 genomesrs797045353
hgdprs797045353
ensemblrs797045353
gopubmedrs797045353
geneviewrs797045353
scholarrs797045353
googlers797045353
pharmgkbrs797045353
gwascentralrs797045353
openSNPrs797045353
23andMers797045353
23andMe allrs797045353
SNP Nexus

SNPshotrs797045353
SNPdbers797045353
MSV3drs797045353
GWAS Ctlgrs797045353
Max Magnitude
ClinVar
Risk rs797045353(;)
Alt rs797045353(;)
Reference rs797045353(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268505delG
CLNSRC
CLNACC RCV000194263.1,