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rs797045364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTAA;GTAA) 0 common in clinvar
Make rs797045364(-;-)
Make rs797045364(-;AAGT)
Make rs797045364(AAGT;AAGT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78021082
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045364
dbSNP (old)rs797045364
ClinGenrs797045364
ebirs797045364
HLIrs797045364
Exacrs797045364
Gnomadrs797045364
Varsomers797045364
Maprs797045364
PheGenIrs797045364
Biobankrs797045364
1000 genomesrs797045364
hgdprs797045364
ensemblrs797045364
gopubmedrs797045364
geneviewrs797045364
scholarrs797045364
googlers797045364
pharmgkbrs797045364
gwascentralrs797045364
openSNPrs797045364
23andMers797045364
23andMe allrs797045364
SNP Nexus

SNPshotrs797045364
SNPdbers797045364
MSV3drs797045364
GWAS Ctlgrs797045364
Max Magnitude0
ClinVar
Risk rs797045364(-;-)
Alt rs797045364(-;-)
Reference Rs797045364(GTAA;GTAA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77276579_77276582delAAGT
CLNSRC
CLNACC RCV000193969.1,