rs879255275
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255275(-;-) |
Make rs879255275(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 40688048 |
Gene | MAFB |
is a | snp |
is | mentioned by |
dbSNP | rs879255275 |
dbSNP (classic) | rs879255275 |
ClinGen | rs879255275 |
ebi | rs879255275 |
HLI | rs879255275 |
Exac | rs879255275 |
Gnomad | rs879255275 |
Varsome | rs879255275 |
LitVar | rs879255275 |
Map | rs879255275 |
PheGenI | rs879255275 |
Biobank | rs879255275 |
1000 genomes | rs879255275 |
hgdp | rs879255275 |
ensembl | rs879255275 |
geneview | rs879255275 |
scholar | rs879255275 |
rs879255275 | |
pharmgkb | rs879255275 |
gwascentral | rs879255275 |
openSNP | rs879255275 |
23andMe | rs879255275 |
SNPshot | rs879255275 |
SNPdbe | rs879255275 |
MSV3d | rs879255275 |
GWAS Ctlg | rs879255275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255275(-;-) |
Alt | rs879255275(-;-) |
Reference | Rs879255275(A;A) |
Significance | Pathogenic |
Disease | Duane retraction syndrome 3 with or without deafness Duane syndrome type 1 Duane syndrome type 2 |
Variation | info |
Gene | MAFB |
CLNDBN | Duane retraction syndrome 3 with or without deafness Duane syndrome type 1 Duane syndrome type 2 |
Reversed | 1 |
HGVS | NC_000020.10:g.39316688delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000235061.1, RCV000240679.1, |