rs28999111
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28999111(C;T) |
Make rs28999111(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 81512000 |
Gene | ACTG1, FSCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs28999111 |
dbSNP (classic) | rs28999111 |
ClinGen | rs28999111 |
ebi | rs28999111 |
HLI | rs28999111 |
Exac | rs28999111 |
Gnomad | rs28999111 |
Varsome | rs28999111 |
LitVar | rs28999111 |
Map | rs28999111 |
PheGenI | rs28999111 |
Biobank | rs28999111 |
1000 genomes | rs28999111 |
hgdp | rs28999111 |
ensembl | rs28999111 |
geneview | rs28999111 |
scholar | rs28999111 |
rs28999111 | |
pharmgkb | rs28999111 |
gwascentral | rs28999111 |
openSNP | rs28999111 |
23andMe | rs28999111 |
SNPshot | rs28999111 |
SNPdbe | rs28999111 |
MSV3d | rs28999111 |
GWAS Ctlg | rs28999111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28999111(T;T) |
Alt | rs28999111(T;T) |
Reference | Rs28999111(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | FSCN2 ACTG1 |
CLNDBN | Deafness, autosomal dominant 20 |
Reversed | 1 |
HGVS | NC_000017.10:g.79479026G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019980.28, |