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rs797045375

From SNPedia

Orientationplus
Make rs797045375(-;-)
Make rs797045375(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78033650
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045375
ebirs797045375
HLIrs797045375
Exacrs797045375
Varsomers797045375
Maprs797045375
PheGenIrs797045375
hapmaprs797045375
1000 genomesrs797045375
hgdprs797045375
ensemblrs797045375
gopubmedrs797045375
geneviewrs797045375
scholarrs797045375
googlers797045375
pharmgkbrs797045375
gwascentralrs797045375
openSNPrs797045375
23andMers797045375
23andMe allrs797045375
SNP Nexus

SNPshotrs797045375
SNPdbers797045375
MSV3drs797045375
GWAS Ctlgrs797045375
Max Magnitude
ClinVar
Risk rs797045375(;)
Alt rs797045375(;)
Reference rs797045375(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.77289148delG
CLNSRC
CLNACC RCV000193615.1,