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rs797045355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATATAGCAAA;CATATAGCAAA) 0 common in clinvar
Make rs797045355(AGCATC;AGCATC)
Make rs797045355(AGCATC;CATATAGCAAA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78013101
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045355
dbSNP (old)rs797045355
ClinGenrs797045355
ebirs797045355
HLIrs797045355
Exacrs797045355
Gnomadrs797045355
Varsomers797045355
Maprs797045355
PheGenIrs797045355
Biobankrs797045355
1000 genomesrs797045355
hgdprs797045355
ensemblrs797045355
gopubmedrs797045355
geneviewrs797045355
scholarrs797045355
googlers797045355
pharmgkbrs797045355
gwascentralrs797045355
openSNPrs797045355
23andMers797045355
23andMe allrs797045355
SNP Nexus

SNPshotrs797045355
SNPdbers797045355
MSV3drs797045355
GWAS Ctlgrs797045355
Max Magnitude0
ClinVar
Risk rs797045355(AGCATC;AGCATC)
Alt rs797045355(AGCATC;AGCATC)
Reference Rs797045355(CATATAGCAAA;CATATAGCAAA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268598_77268608delCATATAGCAAAinsAGCATC
CLNSRC
CLNACC RCV000194331.1,