rs55679042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs55679042(A;A) |
Make rs55679042(A;G) |
Make rs55679042(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57043335 |
Gene | MYO1A |
is a | snp |
is | mentioned by |
dbSNP | rs55679042 |
dbSNP (classic) | rs55679042 |
ClinGen | rs55679042 |
ebi | rs55679042 |
HLI | rs55679042 |
Exac | rs55679042 |
Gnomad | rs55679042 |
Varsome | rs55679042 |
LitVar | rs55679042 |
Map | rs55679042 |
PheGenI | rs55679042 |
Biobank | rs55679042 |
1000 genomes | rs55679042 |
hgdp | rs55679042 |
ensembl | rs55679042 |
geneview | rs55679042 |
scholar | rs55679042 |
rs55679042 | |
pharmgkb | rs55679042 |
gwascentral | rs55679042 |
openSNP | rs55679042 |
23andMe | rs55679042 |
SNPshot | rs55679042 |
SNPdbe | rs55679042 |
MSV3d | rs55679042 |
GWAS Ctlg | rs55679042 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs55679042(T;T) |
Alt | rs55679042(T;T) |
Reference | Rs55679042(C;C) |
Significance | Other |
Disease | Deafness not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO1A |
CLNDBN | Deafness, autosomal dominant 48 not specified Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.57437119C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008625.4, RCV000038478.3, RCV000348646.1, |