rs387907149
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387907149(A;C) |
Make rs387907149(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 44704053 |
Gene | CEACAM16, LOC107985305 |
is a | snp |
is | mentioned by |
dbSNP | rs387907149 |
dbSNP (classic) | rs387907149 |
ClinGen | rs387907149 |
ebi | rs387907149 |
HLI | rs387907149 |
Exac | rs387907149 |
Gnomad | rs387907149 |
Varsome | rs387907149 |
LitVar | rs387907149 |
Map | rs387907149 |
PheGenI | rs387907149 |
Biobank | rs387907149 |
1000 genomes | rs387907149 |
hgdp | rs387907149 |
ensembl | rs387907149 |
geneview | rs387907149 |
scholar | rs387907149 |
rs387907149 | |
pharmgkb | rs387907149 |
gwascentral | rs387907149 |
openSNP | rs387907149 |
23andMe | rs387907149 |
SNPshot | rs387907149 |
SNPdbe | rs387907149 |
MSV3d | rs387907149 |
GWAS Ctlg | rs387907149 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907149(C;C) |
Alt | rs387907149(C;C) |
Reference | Rs387907149(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | CEACAM16 |
CLNDBN | Deafness, autosomal dominant 4b |
Reversed | 0 |
HGVS | NC_000019.9:g.45207323A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024237.4, |