rs149258390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149258390(C;T) |
Make rs149258390(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 65308634 |
Gene | MSRB3 |
is a | snp |
is | mentioned by |
dbSNP | rs149258390 |
dbSNP (classic) | rs149258390 |
ClinGen | rs149258390 |
ebi | rs149258390 |
HLI | rs149258390 |
Exac | rs149258390 |
Gnomad | rs149258390 |
Varsome | rs149258390 |
LitVar | rs149258390 |
Map | rs149258390 |
PheGenI | rs149258390 |
Biobank | rs149258390 |
1000 genomes | rs149258390 |
hgdp | rs149258390 |
ensembl | rs149258390 |
geneview | rs149258390 |
scholar | rs149258390 |
rs149258390 | |
pharmgkb | rs149258390 |
gwascentral | rs149258390 |
openSNP | rs149258390 |
23andMe | rs149258390 |
SNPshot | rs149258390 |
SNPdbe | rs149258390 |
MSV3d | rs149258390 |
GWAS Ctlg | rs149258390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149258390(A;A) rs149258390(T;T) |
Alt | rs149258390(A;A) rs149258390(T;T) |
Reference | Rs149258390(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MSRB3 |
CLNDBN | Deafness, autosomal recessive 74 |
Reversed | 0 |
HGVS | NC_000012.11:g.65702414C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024050.2, |