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rs797045352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045352(-;ATTG)
Make rs797045352(ATTG;ATTG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78012957
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045352
ClinGenrs797045352
ebirs797045352
HLIrs797045352
Exacrs797045352
Varsomers797045352
Maprs797045352
PheGenIrs797045352
hapmaprs797045352
1000 genomesrs797045352
hgdprs797045352
ensemblrs797045352
gopubmedrs797045352
geneviewrs797045352
scholarrs797045352
googlers797045352
pharmgkbrs797045352
gwascentralrs797045352
openSNPrs797045352
23andMers797045352
23andMe allrs797045352
SNP Nexus

SNPshotrs797045352
SNPdbers797045352
MSV3drs797045352
GWAS Ctlgrs797045352
Max Magnitude0
ClinVar
Risk rs797045352(TGAT;TGAT)
Alt rs797045352(TGAT;TGAT)
Reference Rs797045352(-;-)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268451_77268454dupATTG
CLNSRC
CLNACC RCV000195170.1,