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rs797045362

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045362(A;A)
Make rs797045362(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78020367
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045362
ebirs797045362
HLIrs797045362
Exacrs797045362
Varsomers797045362
Maprs797045362
PheGenIrs797045362
hapmaprs797045362
1000 genomesrs797045362
hgdprs797045362
ensemblrs797045362
gopubmedrs797045362
geneviewrs797045362
scholarrs797045362
googlers797045362
pharmgkbrs797045362
gwascentralrs797045362
openSNPrs797045362
23andMers797045362
23andMe allrs797045362
SNP Nexus

SNPshotrs797045362
SNPdbers797045362
MSV3drs797045362
GWAS Ctlgrs797045362
Max Magnitude0
ClinVar
Risk rs797045362(A;A)
Alt rs797045362(A;A)
Reference rs797045362(T;T)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77275864T>A
CLNSRC
CLNACC RCV000193806.1,