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rs797045331

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045331(A;A)
Make rs797045331(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78003072
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045331
ebirs797045331
HLIrs797045331
Exacrs797045331
Varsomers797045331
Maprs797045331
PheGenIrs797045331
hapmaprs797045331
1000 genomesrs797045331
hgdprs797045331
ensemblrs797045331
gopubmedrs797045331
geneviewrs797045331
scholarrs797045331
googlers797045331
pharmgkbrs797045331
gwascentralrs797045331
openSNPrs797045331
23andMers797045331
23andMe allrs797045331
SNP Nexus

SNPshotrs797045331
SNPdbers797045331
MSV3drs797045331
GWAS Ctlgrs797045331
Max Magnitude0
ClinVar
Risk rs797045331(A;A)
Alt rs797045331(A;A)
Reference rs797045331(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77258569G>A
CLNSRC
CLNACC RCV000193686.1,