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rs138958687

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138958687(A;G)
Make rs138958687(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78021066
GeneATP7A
is asnp
is mentioned by
dbSNPrs138958687
ebirs138958687
HLIrs138958687
Exacrs138958687
Varsomers138958687
Maprs138958687
PheGenIrs138958687
hapmaprs138958687
1000 genomesrs138958687
hgdprs138958687
ensemblrs138958687
gopubmedrs138958687
geneviewrs138958687
scholarrs138958687
googlers138958687
pharmgkbrs138958687
gwascentralrs138958687
openSNPrs138958687
23andMers138958687
23andMe allrs138958687
SNP Nexus

SNPshotrs138958687
SNPdbers138958687
MSV3drs138958687
GWAS Ctlgrs138958687
Max Magnitude0
ClinVar
Risk rs138958687(G;G)
Alt rs138958687(G;G)
Reference rs138958687(A;A)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77276563A>G
CLNSRC
CLNACC RCV000192884.1,