rs387906915
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906915(A;G) |
Make rs387906915(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42388943 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs387906915 |
dbSNP (classic) | rs387906915 |
ClinGen | rs387906915 |
ebi | rs387906915 |
HLI | rs387906915 |
Exac | rs387906915 |
Gnomad | rs387906915 |
Varsome | rs387906915 |
LitVar | rs387906915 |
Map | rs387906915 |
PheGenI | rs387906915 |
Biobank | rs387906915 |
1000 genomes | rs387906915 |
hgdp | rs387906915 |
ensembl | rs387906915 |
geneview | rs387906915 |
scholar | rs387906915 |
rs387906915 | |
pharmgkb | rs387906915 |
gwascentral | rs387906915 |
openSNP | rs387906915 |
23andMe | rs387906915 |
SNPshot | rs387906915 |
SNPdbe | rs387906915 |
MSV3d | rs387906915 |
GWAS Ctlg | rs387906915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906915(G;G) |
Alt | rs387906915(G;G) |
Reference | Rs387906915(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Deafness, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000021.8:g.43809052T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023450.4, |