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rs797045327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045327(-;GGGGC)
Make rs797045327(GGGGC;GGGGC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77989646
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045327
ClinGenrs797045327
ebirs797045327
HLIrs797045327
Exacrs797045327
Varsomers797045327
Maprs797045327
PheGenIrs797045327
hapmaprs797045327
1000 genomesrs797045327
hgdprs797045327
ensemblrs797045327
gopubmedrs797045327
geneviewrs797045327
scholarrs797045327
googlers797045327
pharmgkbrs797045327
gwascentralrs797045327
openSNPrs797045327
23andMers797045327
23andMe allrs797045327
SNP Nexus

SNPshotrs797045327
SNPdbers797045327
MSV3drs797045327
GWAS Ctlgrs797045327
Max Magnitude0
ClinVar
Risk rs797045327(CGGGG;CGGGG)
Alt rs797045327(CGGGG;CGGGG)
Reference Rs797045327(-;-)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77245138_77245142dupGGGGC
CLNSRC
CLNACC RCV000193458.1,