rs545947177
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs545947177(A;C) |
Make rs545947177(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 72106214 |
Gene | ANAPC15, LRTOMT |
is a | snp |
is | mentioned by |
dbSNP | rs545947177 |
dbSNP (classic) | rs545947177 |
ClinGen | rs545947177 |
ebi | rs545947177 |
HLI | rs545947177 |
Exac | rs545947177 |
Gnomad | rs545947177 |
Varsome | rs545947177 |
LitVar | rs545947177 |
Map | rs545947177 |
PheGenI | rs545947177 |
Biobank | rs545947177 |
1000 genomes | rs545947177 |
hgdp | rs545947177 |
ensembl | rs545947177 |
geneview | rs545947177 |
scholar | rs545947177 |
rs545947177 | |
pharmgkb | rs545947177 |
gwascentral | rs545947177 |
openSNP | rs545947177 |
23andMe | rs545947177 |
SNPshot | rs545947177 |
SNPdbe | rs545947177 |
MSV3d | rs545947177 |
GWAS Ctlg | rs545947177 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs545947177(C;C) |
Alt | rs545947177(C;C) |
Reference | Rs545947177(A;A) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | ANAPC15 LRTOMT |
CLNDBN | Deafness, autosomal recessive 63 Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000011.9:g.71817260A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000156590.4, RCV000211724.1, |