rs794729665
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794729665(A;C) |
Make rs794729665(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 24178385 |
Gene | DCDC2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729665 |
dbSNP (classic) | rs794729665 |
ClinGen | rs794729665 |
ebi | rs794729665 |
HLI | rs794729665 |
Exac | rs794729665 |
Gnomad | rs794729665 |
Varsome | rs794729665 |
LitVar | rs794729665 |
Map | rs794729665 |
PheGenI | rs794729665 |
Biobank | rs794729665 |
1000 genomes | rs794729665 |
hgdp | rs794729665 |
ensembl | rs794729665 |
geneview | rs794729665 |
scholar | rs794729665 |
rs794729665 | |
pharmgkb | rs794729665 |
gwascentral | rs794729665 |
openSNP | rs794729665 |
23andMe | rs794729665 |
SNPshot | rs794729665 |
SNPdbe | rs794729665 |
MSV3d | rs794729665 |
GWAS Ctlg | rs794729665 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729665(C;C) |
Alt | rs794729665(C;C) |
Reference | Rs794729665(A;A) |
Significance | Pathogenic |
Disease | Nonsyndromic Deafness Deafness |
Variation | info |
Gene | DCDC2 |
CLNDBN | Nonsyndromic Deafness Deafness, autosomal recessive 66 |
Reversed | 1 |
HGVS | NC_000006.11:g.24178613T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157618.2, RCV000185587.4, |