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rs142812715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs142812715(A;T)
Make rs142812715(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position13124053
GeneOPTN
is asnp
is mentioned by
dbSNPrs142812715
dbSNP (old)rs142812715
ClinGenrs142812715
ebirs142812715
HLIrs142812715
Exacrs142812715
Gnomadrs142812715
Varsomers142812715
Maprs142812715
PheGenIrs142812715
Biobankrs142812715
1000 genomesrs142812715
hgdprs142812715
ensemblrs142812715
gopubmedrs142812715
geneviewrs142812715
scholarrs142812715
googlers142812715
pharmgkbrs142812715
gwascentralrs142812715
openSNPrs142812715
23andMers142812715
23andMe allrs142812715
SNPshotrs142812715
SNPdbers142812715
MSV3drs142812715
GWAS Ctlgrs142812715
Max Magnitude0
ClinVar
Risk rs142812715(T;T)
Alt rs142812715(T;T)
Reference Rs142812715(A;A)
Significance Pathogenic
Disease Motor neuron disease
Variation info
Gene OPTN
CLNDBN Motor neuron disease
Reversed 0
HGVS NC_000010.10:g.13166053A>T
CLNSRC
CLNACC RCV000492386.1,