rs786200883
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTTG;TTTG) | 0 | common in clinvar |
Make rs786200883(-;-) |
Make rs786200883(-;TTTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 43614436 |
Gene | STRC |
is a | snp |
is | mentioned by |
dbSNP | rs786200883 |
dbSNP (classic) | rs786200883 |
ClinGen | rs786200883 |
ebi | rs786200883 |
HLI | rs786200883 |
Exac | rs786200883 |
Gnomad | rs786200883 |
Varsome | rs786200883 |
LitVar | rs786200883 |
Map | rs786200883 |
PheGenI | rs786200883 |
Biobank | rs786200883 |
1000 genomes | rs786200883 |
hgdp | rs786200883 |
ensembl | rs786200883 |
geneview | rs786200883 |
scholar | rs786200883 |
rs786200883 | |
pharmgkb | rs786200883 |
gwascentral | rs786200883 |
openSNP | rs786200883 |
23andMe | rs786200883 |
SNPshot | rs786200883 |
SNPdbe | rs786200883 |
MSV3d | rs786200883 |
GWAS Ctlg | rs786200883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200883(-;-) |
Alt | rs786200883(-;-) |
Reference | Rs786200883(TTTG;TTTG) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | STRC |
CLNDBN | Deafness, autosomal recessive 16 |
Reversed | 1 |
HGVS | NC_000015.9:g.43906634_43906637delCAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004592.3, |