rs121908354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908354(C;T) |
Make rs121908354(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71570884 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs121908354 |
dbSNP (classic) | rs121908354 |
ClinGen | rs121908354 |
ebi | rs121908354 |
HLI | rs121908354 |
Exac | rs121908354 |
Gnomad | rs121908354 |
Varsome | rs121908354 |
LitVar | rs121908354 |
Map | rs121908354 |
PheGenI | rs121908354 |
Biobank | rs121908354 |
1000 genomes | rs121908354 |
hgdp | rs121908354 |
ensembl | rs121908354 |
geneview | rs121908354 |
scholar | rs121908354 |
rs121908354 | |
pharmgkb | rs121908354 |
gwascentral | rs121908354 |
openSNP | rs121908354 |
23andMe | rs121908354 |
SNPshot | rs121908354 |
SNPdbe | rs121908354 |
MSV3d | rs121908354 |
GWAS Ctlg | rs121908354 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908354(T;T) |
Alt | rs121908354(T;T) |
Reference | Rs121908354(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | LOC101929085 CDH23 |
CLNDBN | Deafness, autosomal recessive 12 |
Reversed | 0 |
HGVS | NC_000010.10:g.73330641C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005211.4, |