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rs797045384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs797045384(AA;TTAC)
Make rs797045384(TTAC;TTAC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040707
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045384
dbSNP (old)rs797045384
ClinGenrs797045384
ebirs797045384
HLIrs797045384
Exacrs797045384
Gnomadrs797045384
Varsomers797045384
Maprs797045384
PheGenIrs797045384
Biobankrs797045384
1000 genomesrs797045384
hgdprs797045384
ensemblrs797045384
gopubmedrs797045384
geneviewrs797045384
scholarrs797045384
googlers797045384
pharmgkbrs797045384
gwascentralrs797045384
openSNPrs797045384
23andMers797045384
23andMe allrs797045384
SNP Nexus

SNPshotrs797045384
SNPdbers797045384
MSV3drs797045384
GWAS Ctlgrs797045384
Max Magnitude0
ClinVar
Risk rs797045384(TTAC;TTAC)
Alt rs797045384(TTAC;TTAC)
Reference Rs797045384(AA;AA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296205_77296206delAAinsTTAC
CLNSRC
CLNACC RCV000193268.1,