rs28940307
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28940307(A;A) |
Make rs28940307(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 50259210 |
Gene | MYH14 |
is a | snp |
is | mentioned by |
dbSNP | rs28940307 |
dbSNP (classic) | rs28940307 |
ClinGen | rs28940307 |
ebi | rs28940307 |
HLI | rs28940307 |
Exac | rs28940307 |
Gnomad | rs28940307 |
Varsome | rs28940307 |
LitVar | rs28940307 |
Map | rs28940307 |
PheGenI | rs28940307 |
Biobank | rs28940307 |
1000 genomes | rs28940307 |
hgdp | rs28940307 |
ensembl | rs28940307 |
geneview | rs28940307 |
scholar | rs28940307 |
rs28940307 | |
pharmgkb | rs28940307 |
gwascentral | rs28940307 |
openSNP | rs28940307 |
23andMe | rs28940307 |
SNPshot | rs28940307 |
SNPdbe | rs28940307 |
MSV3d | rs28940307 |
GWAS Ctlg | rs28940307 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940307(A;A) |
Alt | rs28940307(A;A) |
Reference | Rs28940307(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYH14 |
CLNDBN | Deafness, autosomal dominant 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.50762467C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002282.4, |