rs121913657
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913657(C;T) |
Make rs121913657(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 36348950 |
Gene | MYH9 |
is a | snp |
is | mentioned by |
dbSNP | rs121913657 |
dbSNP (classic) | rs121913657 |
ClinGen | rs121913657 |
ebi | rs121913657 |
HLI | rs121913657 |
Exac | rs121913657 |
Gnomad | rs121913657 |
Varsome | rs121913657 |
LitVar | rs121913657 |
Map | rs121913657 |
PheGenI | rs121913657 |
Biobank | rs121913657 |
1000 genomes | rs121913657 |
hgdp | rs121913657 |
ensembl | rs121913657 |
geneview | rs121913657 |
scholar | rs121913657 |
rs121913657 | |
pharmgkb | rs121913657 |
gwascentral | rs121913657 |
openSNP | rs121913657 |
23andMe | rs121913657 |
SNPshot | rs121913657 |
SNPdbe | rs121913657 |
MSV3d | rs121913657 |
GWAS Ctlg | rs121913657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913657(T;T) |
Alt | rs121913657(T;T) |
Reference | Rs121913657(C;C) |
Significance | Pathogenic |
Disease | Epstein syndrome MYH9 related disorders Deafness |
Variation | info |
Gene | MYH9 |
CLNDBN | Epstein syndrome MYH9 related disorders Deafness, autosomal dominant nonsyndromic sensorineural 17 |
Reversed | 1 |
HGVS | NC_000022.10:g.36744995G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015138.22, RCV000055880.1, RCV000477821.1, |