rs137939966
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137939966(A;G) |
Make rs137939966(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 12752540 |
Gene | MYOCD |
is a | snp |
is | mentioned by |
dbSNP | rs137939966 |
dbSNP (classic) | rs137939966 |
ClinGen | rs137939966 |
ebi | rs137939966 |
HLI | rs137939966 |
Exac | rs137939966 |
Gnomad | rs137939966 |
Varsome | rs137939966 |
LitVar | rs137939966 |
Map | rs137939966 |
PheGenI | rs137939966 |
Biobank | rs137939966 |
1000 genomes | rs137939966 |
hgdp | rs137939966 |
ensembl | rs137939966 |
geneview | rs137939966 |
scholar | rs137939966 |
rs137939966 | |
pharmgkb | rs137939966 |
gwascentral | rs137939966 |
openSNP | rs137939966 |
23andMe | rs137939966 |
SNPshot | rs137939966 |
SNPdbe | rs137939966 |
MSV3d | rs137939966 |
GWAS Ctlg | rs137939966 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137939966(G;G) |
Alt | rs137939966(G;G) |
Reference | Rs137939966(A;A) |
Significance | Probable-Pathogenic |
Disease | Intellectual disability Seizures |
Variation | info |
Gene | MYOCD |
CLNDBN | Intellectual disability Seizures |
Reversed | 0 |
HGVS | NC_000017.10:g.12655857A>G |
CLNSRC | |
CLNACC | RCV000162186.1, |