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rs797045380

From SNPedia

Orientationplus
Make rs797045380(-;-)
Make rs797045380(-;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78038861
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045380
ebirs797045380
HLIrs797045380
Exacrs797045380
Varsomers797045380
Maprs797045380
PheGenIrs797045380
hapmaprs797045380
1000 genomesrs797045380
hgdprs797045380
ensemblrs797045380
gopubmedrs797045380
geneviewrs797045380
scholarrs797045380
googlers797045380
pharmgkbrs797045380
gwascentralrs797045380
openSNPrs797045380
23andMers797045380
23andMe allrs797045380
SNP Nexus

SNPshotrs797045380
SNPdbers797045380
MSV3drs797045380
GWAS Ctlgrs797045380
Max Magnitude
ClinVar
Risk rs797045380(;)
Alt rs797045380(;)
Reference rs797045380(A;A)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77294359delA
CLNSRC
CLNACC RCV000195251.1,