rs797045596
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GAAGTTCATCAAGGGG) | 3 | Carrier of a recessive deafness mutation |
(AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGA) | 0 | common in clinvar |
Make rs797045596(-;-) |
Make rs797045596(GAAGTTCATCAAGGGG;GAAGTTCATCAAGGGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 20189255 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045596 |
dbSNP (classic) | rs797045596 |
ClinGen | rs797045596 |
ebi | rs797045596 |
HLI | rs797045596 |
Exac | rs797045596 |
Gnomad | rs797045596 |
Varsome | rs797045596 |
LitVar | rs797045596 |
Map | rs797045596 |
PheGenI | rs797045596 |
Biobank | rs797045596 |
1000 genomes | rs797045596 |
hgdp | rs797045596 |
ensembl | rs797045596 |
geneview | rs797045596 |
scholar | rs797045596 |
rs797045596 | |
pharmgkb | rs797045596 |
gwascentral | rs797045596 |
openSNP | rs797045596 |
23andMe | rs797045596 |
SNPshot | rs797045596 |
SNPdbe | rs797045596 |
MSV3d | rs797045596 |
GWAS Ctlg | rs797045596 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045596(-;-) |
Alt | rs797045596(-;-) |
Reference | Rs797045596(AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGA) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Deafness, autosomal recessive 1A |
Reversed | 1 |
HGVS | NC_000013.10:g.20763394_20763409del16 |
CLNSRC | |
CLNACC | RCV000194203.1, |