rs387906219
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906219(-;-) |
Make rs387906219(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 137199285 |
Gene | TPRN |
is a | snp |
is | mentioned by |
dbSNP | rs387906219 |
dbSNP (classic) | rs387906219 |
ClinGen | rs387906219 |
ebi | rs387906219 |
HLI | rs387906219 |
Exac | rs387906219 |
Gnomad | rs387906219 |
Varsome | rs387906219 |
LitVar | rs387906219 |
Map | rs387906219 |
PheGenI | rs387906219 |
Biobank | rs387906219 |
1000 genomes | rs387906219 |
hgdp | rs387906219 |
ensembl | rs387906219 |
geneview | rs387906219 |
scholar | rs387906219 |
rs387906219 | |
pharmgkb | rs387906219 |
gwascentral | rs387906219 |
openSNP | rs387906219 |
23andMe | rs387906219 |
SNPshot | rs387906219 |
SNPdbe | rs387906219 |
MSV3d | rs387906219 |
GWAS Ctlg | rs387906219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906219(-;-) |
Alt | rs387906219(-;-) |
Reference | Rs387906219(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TPRN |
CLNDBN | Deafness, autosomal recessive 79 |
Reversed | 1 |
HGVS | NC_000009.11:g.140093737delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000158.3, |