rs137853188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853188(C;G) |
Make rs137853188(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 72106185 |
Gene | ANAPC15, LRTOMT |
is a | snp |
is | mentioned by |
dbSNP | rs137853188 |
dbSNP (classic) | rs137853188 |
ClinGen | rs137853188 |
ebi | rs137853188 |
HLI | rs137853188 |
Exac | rs137853188 |
Gnomad | rs137853188 |
Varsome | rs137853188 |
LitVar | rs137853188 |
Map | rs137853188 |
PheGenI | rs137853188 |
Biobank | rs137853188 |
1000 genomes | rs137853188 |
hgdp | rs137853188 |
ensembl | rs137853188 |
geneview | rs137853188 |
scholar | rs137853188 |
rs137853188 | |
pharmgkb | rs137853188 |
gwascentral | rs137853188 |
openSNP | rs137853188 |
23andMe | rs137853188 |
SNPshot | rs137853188 |
SNPdbe | rs137853188 |
MSV3d | rs137853188 |
GWAS Ctlg | rs137853188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853188(G;G) |
Alt | rs137853188(G;G) |
Reference | Rs137853188(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ANAPC15 LRTOMT |
CLNDBN | Deafness, autosomal recessive 63 |
Reversed | 0 |
HGVS | NC_000011.9:g.71817231C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000576.2, |