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rs797045383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045383(ATGACTGG;ATGACTGG)
Make rs797045383(ATGACTGG;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040706
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045383
dbSNP (old)rs797045383
ClinGenrs797045383
ebirs797045383
HLIrs797045383
Exacrs797045383
Varsomers797045383
Maprs797045383
PheGenIrs797045383
Biobankrs797045383
1000 genomesrs797045383
hgdprs797045383
ensemblrs797045383
gopubmedrs797045383
geneviewrs797045383
scholarrs797045383
googlers797045383
pharmgkbrs797045383
gwascentralrs797045383
openSNPrs797045383
23andMers797045383
23andMe allrs797045383
SNP Nexus

SNPshotrs797045383
SNPdbers797045383
MSV3drs797045383
GWAS Ctlgrs797045383
Max Magnitude0
ClinVar
Risk rs797045383(ATGACTGG;ATGACTGG)
Alt rs797045383(ATGACTGG;ATGACTGG)
Reference Rs797045383(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296204delTinsATGACTGG
CLNSRC
CLNACC RCV000195218.1,