rs606231410
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs606231410(G;T) |
Make rs606231410(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 33189443 |
Gene | COL11A2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231410 |
dbSNP (classic) | rs606231410 |
ClinGen | rs606231410 |
ebi | rs606231410 |
HLI | rs606231410 |
Exac | rs606231410 |
Gnomad | rs606231410 |
Varsome | rs606231410 |
LitVar | rs606231410 |
Map | rs606231410 |
PheGenI | rs606231410 |
Biobank | rs606231410 |
1000 genomes | rs606231410 |
hgdp | rs606231410 |
ensembl | rs606231410 |
geneview | rs606231410 |
scholar | rs606231410 |
rs606231410 | |
pharmgkb | rs606231410 |
gwascentral | rs606231410 |
openSNP | rs606231410 |
23andMe | rs606231410 |
SNPshot | rs606231410 |
SNPdbe | rs606231410 |
MSV3d | rs606231410 |
GWAS Ctlg | rs606231410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231410(T;T) |
Alt | rs606231410(T;T) |
Reference | Rs606231410(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic Deafness Deafness |
Variation | info |
Gene | COL11A2 |
CLNDBN | Nonsyndromic Deafness Deafness, autosomal recessive 53 |
Reversed | 1 |
HGVS | NC_000006.11:g.33157220C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000148342.2, RCV000202598.1, |