rs876661301
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCGC;CCGC) | 0 | common in clinvar |
Make rs876661301(-;-) |
Make rs876661301(-;CGCC) |
Make rs876661301(CGCC;CGCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 46705818 |
Gene | TMIE |
is a | snp |
is | mentioned by |
dbSNP | rs876661301 |
dbSNP (classic) | rs876661301 |
ClinGen | rs876661301 |
ebi | rs876661301 |
HLI | rs876661301 |
Exac | rs876661301 |
Gnomad | rs876661301 |
Varsome | rs876661301 |
LitVar | rs876661301 |
Map | rs876661301 |
PheGenI | rs876661301 |
Biobank | rs876661301 |
1000 genomes | rs876661301 |
hgdp | rs876661301 |
ensembl | rs876661301 |
geneview | rs876661301 |
scholar | rs876661301 |
rs876661301 | |
pharmgkb | rs876661301 |
gwascentral | rs876661301 |
openSNP | rs876661301 |
23andMe | rs876661301 |
SNPshot | rs876661301 |
SNPdbe | rs876661301 |
MSV3d | rs876661301 |
GWAS Ctlg | rs876661301 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661301(-;-) |
Alt | rs876661301(-;-) |
Reference | Rs876661301(CCGC;CCGC) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMIE |
CLNDBN | Deafness, autosomal recessive 6 |
Reversed | 0 |
HGVS | NC_000003.11:g.46747308_46747311delCGCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003556.6, |