rs104894544
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894544(A;T) |
Make rs104894544(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 81511913 |
Gene | ACTG1, FSCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894544 |
dbSNP (classic) | rs104894544 |
ClinGen | rs104894544 |
ebi | rs104894544 |
HLI | rs104894544 |
Exac | rs104894544 |
Gnomad | rs104894544 |
Varsome | rs104894544 |
LitVar | rs104894544 |
Map | rs104894544 |
PheGenI | rs104894544 |
Biobank | rs104894544 |
1000 genomes | rs104894544 |
hgdp | rs104894544 |
ensembl | rs104894544 |
geneview | rs104894544 |
scholar | rs104894544 |
rs104894544 | |
pharmgkb | rs104894544 |
gwascentral | rs104894544 |
openSNP | rs104894544 |
23andMe | rs104894544 |
SNPshot | rs104894544 |
SNPdbe | rs104894544 |
MSV3d | rs104894544 |
GWAS Ctlg | rs104894544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894544(G;G) rs104894544(T;T) |
Alt | rs104894544(G;G) rs104894544(T;T) |
Reference | Rs104894544(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ACTG1 |
CLNDBN | Deafness, autosomal dominant 20 |
Reversed | 1 |
HGVS | NC_000017.10:g.79478939T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019981.28, |