rs398124237
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124237(-;A) |
Make rs398124237(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 20222791 |
Gene | GJB6 |
is a | snp |
is | mentioned by |
dbSNP | rs398124237 |
dbSNP (classic) | rs398124237 |
ClinGen | rs398124237 |
ebi | rs398124237 |
HLI | rs398124237 |
Exac | rs398124237 |
Gnomad | rs398124237 |
Varsome | rs398124237 |
LitVar | rs398124237 |
Map | rs398124237 |
PheGenI | rs398124237 |
Biobank | rs398124237 |
1000 genomes | rs398124237 |
hgdp | rs398124237 |
ensembl | rs398124237 |
geneview | rs398124237 |
scholar | rs398124237 |
rs398124237 | |
pharmgkb | rs398124237 |
gwascentral | rs398124237 |
openSNP | rs398124237 |
23andMe | rs398124237 |
SNPshot | rs398124237 |
SNPdbe | rs398124237 |
MSV3d | rs398124237 |
GWAS Ctlg | rs398124237 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124237(A;A) |
Alt | rs398124237(A;A) |
Reference | Rs398124237(-;-) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | GJB6 |
CLNDBN | not provided not specified |
Reversed | 1 |
HGVS | NC_000013.10:g.20796931dupT |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000081460.3, RCV000155697.2, |