rs137853186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853186(C;C) |
Make rs137853186(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 72106165 |
Gene | ANAPC15, LRTOMT |
is a | snp |
is | mentioned by |
dbSNP | rs137853186 |
dbSNP (classic) | rs137853186 |
ClinGen | rs137853186 |
ebi | rs137853186 |
HLI | rs137853186 |
Exac | rs137853186 |
Gnomad | rs137853186 |
Varsome | rs137853186 |
LitVar | rs137853186 |
Map | rs137853186 |
PheGenI | rs137853186 |
Biobank | rs137853186 |
1000 genomes | rs137853186 |
hgdp | rs137853186 |
ensembl | rs137853186 |
geneview | rs137853186 |
scholar | rs137853186 |
rs137853186 | |
pharmgkb | rs137853186 |
gwascentral | rs137853186 |
openSNP | rs137853186 |
23andMe | rs137853186 |
SNPshot | rs137853186 |
SNPdbe | rs137853186 |
MSV3d | rs137853186 |
GWAS Ctlg | rs137853186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853186(C;C) |
Alt | rs137853186(C;C) |
Reference | Rs137853186(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ANAPC15 LRTOMT |
CLNDBN | Deafness, autosomal recessive 63 |
Reversed | 0 |
HGVS | NC_000011.9:g.71817211T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000574.2, |