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rs797045400

From SNPedia

Orientationplus
Make rs797045400(-;-)
Make rs797045400(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77989498
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045400
ebirs797045400
HLIrs797045400
Exacrs797045400
Varsomers797045400
Maprs797045400
PheGenIrs797045400
hapmaprs797045400
1000 genomesrs797045400
hgdprs797045400
ensemblrs797045400
gopubmedrs797045400
geneviewrs797045400
scholarrs797045400
googlers797045400
pharmgkbrs797045400
gwascentralrs797045400
openSNPrs797045400
23andMers797045400
23andMe allrs797045400
SNP Nexus

SNPshotrs797045400
SNPdbers797045400
MSV3drs797045400
GWAS Ctlgrs797045400
Max Magnitude
ClinVar
Risk rs797045400(;)
Alt rs797045400(;)
Reference rs797045400(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.77244994delG
CLNSRC
CLNACC RCV000193287.1,