rs199700840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199700840(A;A) |
Make rs199700840(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 2497026 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs199700840 |
dbSNP (classic) | rs199700840 |
ClinGen | rs199700840 |
ebi | rs199700840 |
HLI | rs199700840 |
Exac | rs199700840 |
Gnomad | rs199700840 |
Varsome | rs199700840 |
LitVar | rs199700840 |
Map | rs199700840 |
PheGenI | rs199700840 |
Biobank | rs199700840 |
1000 genomes | rs199700840 |
hgdp | rs199700840 |
ensembl | rs199700840 |
geneview | rs199700840 |
scholar | rs199700840 |
rs199700840 | |
pharmgkb | rs199700840 |
gwascentral | rs199700840 |
openSNP | rs199700840 |
23andMe | rs199700840 |
SNPshot | rs199700840 |
SNPdbe | rs199700840 |
MSV3d | rs199700840 |
GWAS Ctlg | rs199700840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199700840(A;A) rs199700840(C;C) |
Alt | rs199700840(A;A) rs199700840(C;C) |
Reference | Rs199700840(G;G) |
Significance | Pathogenic |
Disease | not specified Deafness |
Variation | info |
Gene | TBC1D24 |
CLNDBN | not specified Deafness, autosomal recessive 86 |
Reversed | 0 |
HGVS | NC_000016.9:g.2547027G>A; NC_000016.9:g.2547027G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000189706.3, RCV000087078.6, |