rs140236996
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140236996(C;T) |
Make rs140236996(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 121168064 |
Gene | TECTA |
is a | snp |
is | mentioned by |
dbSNP | rs140236996 |
dbSNP (classic) | rs140236996 |
ClinGen | rs140236996 |
ebi | rs140236996 |
HLI | rs140236996 |
Exac | rs140236996 |
Gnomad | rs140236996 |
Varsome | rs140236996 |
LitVar | rs140236996 |
Map | rs140236996 |
PheGenI | rs140236996 |
Biobank | rs140236996 |
1000 genomes | rs140236996 |
hgdp | rs140236996 |
ensembl | rs140236996 |
geneview | rs140236996 |
scholar | rs140236996 |
rs140236996 | |
pharmgkb | rs140236996 |
gwascentral | rs140236996 |
openSNP | rs140236996 |
23andMe | rs140236996 |
SNPshot | rs140236996 |
SNPdbe | rs140236996 |
MSV3d | rs140236996 |
GWAS Ctlg | rs140236996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140236996(G;G) rs140236996(T;T) |
Alt | rs140236996(G;G) rs140236996(T;T) |
Reference | Rs140236996(C;C) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss not provided |
Variation | info |
Gene | TECTA |
CLNDBN | Deafness, autosomal dominant 12 Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.121038773C>T |
CLNSRC | |
CLNACC | RCV000225064.2, RCV000264805.1, RCV000324612.1, RCV000479439.1, |