rs199839039
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199839039(C;T) |
Make rs199839039(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 43601395 |
Gene | STRC |
is a | snp |
is | mentioned by |
dbSNP | rs199839039 |
dbSNP (classic) | rs199839039 |
ClinGen | rs199839039 |
ebi | rs199839039 |
HLI | rs199839039 |
Exac | rs199839039 |
Gnomad | rs199839039 |
Varsome | rs199839039 |
LitVar | rs199839039 |
Map | rs199839039 |
PheGenI | rs199839039 |
Biobank | rs199839039 |
1000 genomes | rs199839039 |
hgdp | rs199839039 |
ensembl | rs199839039 |
geneview | rs199839039 |
scholar | rs199839039 |
rs199839039 | |
pharmgkb | rs199839039 |
gwascentral | rs199839039 |
openSNP | rs199839039 |
23andMe | rs199839039 |
SNPshot | rs199839039 |
SNPdbe | rs199839039 |
MSV3d | rs199839039 |
GWAS Ctlg | rs199839039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199839039(T;T) |
Alt | rs199839039(T;T) |
Reference | Rs199839039(C;C) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | STRC |
CLNDBN | Deafness, autosomal recessive 16 Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000015.9:g.43893593C>T |
CLNSRC | |
CLNACC | RCV000151944.4, RCV000211855.1, |