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rs797045333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs797045333(-;-)
Make rs797045333(-;TA)
Make rs797045333(TA;TA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78003196
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045333
dbSNP (old)rs797045333
ClinGenrs797045333
ebirs797045333
HLIrs797045333
Exacrs797045333
Gnomadrs797045333
Varsomers797045333
Maprs797045333
PheGenIrs797045333
Biobankrs797045333
1000 genomesrs797045333
hgdprs797045333
ensemblrs797045333
gopubmedrs797045333
geneviewrs797045333
scholarrs797045333
googlers797045333
pharmgkbrs797045333
gwascentralrs797045333
openSNPrs797045333
23andMers797045333
23andMe allrs797045333
SNP Nexus

SNPshotrs797045333
SNPdbers797045333
MSV3drs797045333
GWAS Ctlgrs797045333
Max Magnitude0
ClinVar
Risk rs797045333(-;-)
Alt rs797045333(-;-)
Reference Rs797045333(AT;AT)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77258693_77258694delTA
CLNSRC
CLNACC RCV000192761.1,