rs121918333
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121918333(A;G) |
Make rs121918333(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 115969097 |
Gene | MED13L |
is a | snp |
is | mentioned by |
dbSNP | rs121918333 |
dbSNP (classic) | rs121918333 |
ClinGen | rs121918333 |
ebi | rs121918333 |
HLI | rs121918333 |
Exac | rs121918333 |
Gnomad | rs121918333 |
Varsome | rs121918333 |
LitVar | rs121918333 |
Map | rs121918333 |
PheGenI | rs121918333 |
Biobank | rs121918333 |
1000 genomes | rs121918333 |
hgdp | rs121918333 |
ensembl | rs121918333 |
geneview | rs121918333 |
scholar | rs121918333 |
rs121918333 | |
pharmgkb | rs121918333 |
gwascentral | rs121918333 |
openSNP | rs121918333 |
23andMe | rs121918333 |
SNPshot | rs121918333 |
SNPdbe | rs121918333 |
MSV3d | rs121918333 |
GWAS Ctlg | rs121918333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918333(G;G) |
Alt | rs121918333(G;G) |
Reference | Rs121918333(A;A) |
Significance | Pathogenic |
Disease | Transposition of the great arteries |
Variation | info |
Gene | MED13L |
CLNDBN | Transposition of the great arteries, dextro-looped 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.116406902T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002189.3, |