rs864309654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATT;ATT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs864309654(-;-) |
Make rs864309654(-;ATT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88518858 |
Gene | KITLG |
is a | snp |
is | mentioned by |
dbSNP | rs864309654 |
dbSNP (classic) | rs864309654 |
ClinGen | rs864309654 |
ebi | rs864309654 |
HLI | rs864309654 |
Exac | rs864309654 |
Gnomad | rs864309654 |
Varsome | rs864309654 |
LitVar | rs864309654 |
Map | rs864309654 |
PheGenI | rs864309654 |
Biobank | rs864309654 |
1000 genomes | rs864309654 |
hgdp | rs864309654 |
ensembl | rs864309654 |
geneview | rs864309654 |
scholar | rs864309654 |
rs864309654 | |
pharmgkb | rs864309654 |
gwascentral | rs864309654 |
openSNP | rs864309654 |
23andMe | rs864309654 |
SNPshot | rs864309654 |
SNPdbe | rs864309654 |
MSV3d | rs864309654 |
GWAS Ctlg | rs864309654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309654(-;-) |
Alt | rs864309654(-;-) |
Reference | Rs864309654(ATT;ATT) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | KITLG |
CLNDBN | Deafness, autosomal dominant 69 |
Reversed | 1 |
HGVS | NC_000012.11:g.88912635_88912637delAAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203244.3, |