rs712270
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs712270(A;A) |
Make rs712270(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 18153853 |
Gene | LOC105371567, LOC105371568, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs712270 |
dbSNP (classic) | rs712270 |
ClinGen | rs712270 |
ebi | rs712270 |
HLI | rs712270 |
Exac | rs712270 |
Gnomad | rs712270 |
Varsome | rs712270 |
LitVar | rs712270 |
Map | rs712270 |
PheGenI | rs712270 |
Biobank | rs712270 |
1000 genomes | rs712270 |
hgdp | rs712270 |
ensembl | rs712270 |
geneview | rs712270 |
scholar | rs712270 |
rs712270 | |
pharmgkb | rs712270 |
gwascentral | rs712270 |
openSNP | rs712270 |
23andMe | rs712270 |
SNPshot | rs712270 |
SNPdbe | rs712270 |
MSV3d | rs712270 |
GWAS Ctlg | rs712270 |
GMAF | 0.2466 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs712270(A;A) |
Alt | rs712270(A;A) |
Reference | Rs712270(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO15A |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
Reversed | 1 |
HGVS | NC_000017.10:g.18057167A>T |
CLNSRC | |
CLNACC | RCV000214657.2, RCV000317870.1, |