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rs797045397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs797045397(-;-)
Make rs797045397(-;GA)
Make rs797045397(GA;GA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77988542
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045397
ClinGenrs797045397
ebirs797045397
HLIrs797045397
Exacrs797045397
Varsomers797045397
Maprs797045397
PheGenIrs797045397
hapmaprs797045397
1000 genomesrs797045397
hgdprs797045397
ensemblrs797045397
gopubmedrs797045397
geneviewrs797045397
scholarrs797045397
googlers797045397
pharmgkbrs797045397
gwascentralrs797045397
openSNPrs797045397
23andMers797045397
23andMe allrs797045397
SNP Nexus

SNPshotrs797045397
SNPdbers797045397
MSV3drs797045397
GWAS Ctlgrs797045397
Max Magnitude0
ClinVar
Risk rs797045397(-;-)
Alt rs797045397(-;-)
Reference Rs797045397(AG;AG)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77244038_77244039delGA
CLNSRC
CLNACC RCV000195012.1,