rs370965183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370965183(A;A) |
Make rs370965183(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 78109284 |
Gene | CIB2 |
is a | snp |
is | mentioned by |
dbSNP | rs370965183 |
dbSNP (classic) | rs370965183 |
ClinGen | rs370965183 |
ebi | rs370965183 |
HLI | rs370965183 |
Exac | rs370965183 |
Gnomad | rs370965183 |
Varsome | rs370965183 |
LitVar | rs370965183 |
Map | rs370965183 |
PheGenI | rs370965183 |
Biobank | rs370965183 |
1000 genomes | rs370965183 |
hgdp | rs370965183 |
ensembl | rs370965183 |
geneview | rs370965183 |
scholar | rs370965183 |
rs370965183 | |
pharmgkb | rs370965183 |
gwascentral | rs370965183 |
openSNP | rs370965183 |
23andMe | rs370965183 |
SNPshot | rs370965183 |
SNPdbe | rs370965183 |
MSV3d | rs370965183 |
GWAS Ctlg | rs370965183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370965183(A;A) rs370965183(C;C) |
Alt | rs370965183(A;A) rs370965183(C;C) |
Reference | Rs370965183(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | CIB2 |
CLNDBN | Deafness, autosomal recessive 48 |
Reversed | 0 |
HGVS | NC_000015.9:g.78401626G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032888.3, |