rs142812715
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs142812715(A;T) |
Make rs142812715(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 13124053 |
Gene | OPTN |
is a | snp |
is | mentioned by |
dbSNP | rs142812715 |
dbSNP (classic) | rs142812715 |
ClinGen | rs142812715 |
ebi | rs142812715 |
HLI | rs142812715 |
Exac | rs142812715 |
Gnomad | rs142812715 |
Varsome | rs142812715 |
LitVar | rs142812715 |
Map | rs142812715 |
PheGenI | rs142812715 |
Biobank | rs142812715 |
1000 genomes | rs142812715 |
hgdp | rs142812715 |
ensembl | rs142812715 |
geneview | rs142812715 |
scholar | rs142812715 |
rs142812715 | |
pharmgkb | rs142812715 |
gwascentral | rs142812715 |
openSNP | rs142812715 |
23andMe | rs142812715 |
SNPshot | rs142812715 |
SNPdbe | rs142812715 |
MSV3d | rs142812715 |
GWAS Ctlg | rs142812715 |
Max Magnitude | 0 |
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, |