rs879255277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255277(-;-) |
Make rs879255277(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 40688207 |
Gene | MAFB |
is a | snp |
is | mentioned by |
dbSNP | rs879255277 |
dbSNP (classic) | rs879255277 |
ClinGen | rs879255277 |
ebi | rs879255277 |
HLI | rs879255277 |
Exac | rs879255277 |
Gnomad | rs879255277 |
Varsome | rs879255277 |
LitVar | rs879255277 |
Map | rs879255277 |
PheGenI | rs879255277 |
Biobank | rs879255277 |
1000 genomes | rs879255277 |
hgdp | rs879255277 |
ensembl | rs879255277 |
geneview | rs879255277 |
scholar | rs879255277 |
rs879255277 | |
pharmgkb | rs879255277 |
gwascentral | rs879255277 |
openSNP | rs879255277 |
23andMe | rs879255277 |
SNPshot | rs879255277 |
SNPdbe | rs879255277 |
MSV3d | rs879255277 |
GWAS Ctlg | rs879255277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255277(-;-) |
Alt | rs879255277(-;-) |
Reference | Rs879255277(A;A) |
Significance | Pathogenic |
Disease | Duane syndrome type 3 Duane syndrome type 1 Duane syndrome type 2 |
Variation | info |
Gene | MAFB |
CLNDBN | Duane syndrome type 3 Duane syndrome type 1 Duane syndrome type 2 |
Reversed | 1 |
HGVS | NC_000020.10:g.39316847delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000235047.1, RCV000240779.1, |