rs397515412
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397515412(C;C) |
Make rs397515412(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 78105913 |
Gene | CIB2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515412 |
dbSNP (classic) | rs397515412 |
ClinGen | rs397515412 |
ebi | rs397515412 |
HLI | rs397515412 |
Exac | rs397515412 |
Gnomad | rs397515412 |
Varsome | rs397515412 |
LitVar | rs397515412 |
Map | rs397515412 |
PheGenI | rs397515412 |
Biobank | rs397515412 |
1000 genomes | rs397515412 |
hgdp | rs397515412 |
ensembl | rs397515412 |
geneview | rs397515412 |
scholar | rs397515412 |
rs397515412 | |
pharmgkb | rs397515412 |
gwascentral | rs397515412 |
openSNP | rs397515412 |
23andMe | rs397515412 |
SNPshot | rs397515412 |
SNPdbe | rs397515412 |
MSV3d | rs397515412 |
GWAS Ctlg | rs397515412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515412(C;C) |
Alt | rs397515412(C;C) |
Reference | Rs397515412(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | CIB2 |
CLNDBN | Deafness, autosomal recessive 48 |
Reversed | 1 |
HGVS | NC_000015.9:g.78398255A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032889.3, |