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rs797045358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045358(-;GTGAAGA)
Make rs797045358(GTGAAGA;GTGAAGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78015759
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045358
dbSNP (old)rs797045358
ClinGenrs797045358
ebirs797045358
HLIrs797045358
Exacrs797045358
Gnomadrs797045358
Varsomers797045358
Maprs797045358
PheGenIrs797045358
Biobankrs797045358
1000 genomesrs797045358
hgdprs797045358
ensemblrs797045358
gopubmedrs797045358
geneviewrs797045358
scholarrs797045358
googlers797045358
pharmgkbrs797045358
gwascentralrs797045358
openSNPrs797045358
23andMers797045358
23andMe allrs797045358
SNP Nexus

SNPshotrs797045358
SNPdbers797045358
MSV3drs797045358
GWAS Ctlgrs797045358
Max Magnitude0
ClinVar
Risk rs797045358(AGTGAAG;AGTGAAG)
Alt rs797045358(AGTGAAG;AGTGAAG)
Reference Rs797045358(-;-)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77271250_77271256dupGTGAAGA
CLNSRC
CLNACC RCV000192331.1,