rs121908966
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908966(A;T) |
Make rs121908966(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 18145929 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs121908966 |
dbSNP (classic) | rs121908966 |
ClinGen | rs121908966 |
ebi | rs121908966 |
HLI | rs121908966 |
Exac | rs121908966 |
Gnomad | rs121908966 |
Varsome | rs121908966 |
LitVar | rs121908966 |
Map | rs121908966 |
PheGenI | rs121908966 |
Biobank | rs121908966 |
1000 genomes | rs121908966 |
hgdp | rs121908966 |
ensembl | rs121908966 |
geneview | rs121908966 |
scholar | rs121908966 |
rs121908966 | |
pharmgkb | rs121908966 |
gwascentral | rs121908966 |
openSNP | rs121908966 |
23andMe | rs121908966 |
SNPshot | rs121908966 |
SNPdbe | rs121908966 |
MSV3d | rs121908966 |
GWAS Ctlg | rs121908966 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908966(T;T) |
Alt | rs121908966(T;T) |
Reference | Rs121908966(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18049243A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007366.2, |