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rs747481280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747481280(G;G)
Make rs747481280(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position13132068
GeneOPTN
is asnp
is mentioned by
dbSNPrs747481280
dbSNP (classic)rs747481280
ClinGenrs747481280
ebirs747481280
HLIrs747481280
Exacrs747481280
Gnomadrs747481280
Varsomers747481280
LitVarrs747481280
Maprs747481280
PheGenIrs747481280
Biobankrs747481280
1000 genomesrs747481280
hgdprs747481280
ensemblrs747481280
geneviewrs747481280
scholarrs747481280
googlers747481280
pharmgkbrs747481280
gwascentralrs747481280
openSNPrs747481280
23andMers747481280
23andMe allrs747481280
SNPshotrs747481280
SNPdbers747481280
MSV3drs747481280
GWAS Ctlgrs747481280
Max Magnitude0
ClinVar
Risk rs747481280(G;G)
Alt rs747481280(G;G)
Reference Rs747481280(T;T)
Significance Probable-Pathogenic
Disease Motor neuron disease
Variation info
Gene OPTN
CLNDBN Motor neuron disease
Reversed 0
HGVS NC_000010.10:g.13174068T>G
CLNSRC
CLNACC RCV000492219.1,