rs281860302
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs281860302(-;-) |
Make rs281860302(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 69816389 |
Gene | FGF3 |
is a | snp |
is | mentioned by |
dbSNP | rs281860302 |
dbSNP (classic) | rs281860302 |
ClinGen | rs281860302 |
ebi | rs281860302 |
HLI | rs281860302 |
Exac | rs281860302 |
Gnomad | rs281860302 |
Varsome | rs281860302 |
LitVar | rs281860302 |
Map | rs281860302 |
PheGenI | rs281860302 |
Biobank | rs281860302 |
1000 genomes | rs281860302 |
hgdp | rs281860302 |
ensembl | rs281860302 |
geneview | rs281860302 |
scholar | rs281860302 |
rs281860302 | |
pharmgkb | rs281860302 |
gwascentral | rs281860302 |
openSNP | rs281860302 |
23andMe | rs281860302 |
SNPshot | rs281860302 |
SNPdbe | rs281860302 |
MSV3d | rs281860302 |
GWAS Ctlg | rs281860302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281860302(-;-) |
Alt | rs281860302(-;-) |
Reference | Rs281860302(T;T) |
Significance | Pathogenic |
Disease | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
Variation | info |
Gene | FGF3 |
CLNDBN | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
Reversed | 1 |
HGVS | NC_000011.9:g.69631157delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014854.27, |