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rs797045369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTTGA;TTTGA) 0 common in clinvar
Make rs797045369(AGTACAGG;AGTACAGG)
Make rs797045369(AGTACAGG;TTTGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031415
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045369
ClinGenrs797045369
ebirs797045369
HLIrs797045369
Exacrs797045369
Varsomers797045369
Maprs797045369
PheGenIrs797045369
hapmaprs797045369
1000 genomesrs797045369
hgdprs797045369
ensemblrs797045369
gopubmedrs797045369
geneviewrs797045369
scholarrs797045369
googlers797045369
pharmgkbrs797045369
gwascentralrs797045369
openSNPrs797045369
23andMers797045369
23andMe allrs797045369
SNP Nexus

SNPshotrs797045369
SNPdbers797045369
MSV3drs797045369
GWAS Ctlgrs797045369
Max Magnitude0
ClinVar
Risk rs797045369(AGTACAGG;AGTACAGG)
Alt rs797045369(AGTACAGG;AGTACAGG)
Reference Rs797045369(TTTGA;TTTGA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77286913_77286917delTTTGAinsAGTACAGG
CLNSRC
CLNACC RCV000193069.1,