rs864309653
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGTAATTATTCCATCATA;AGTAATTATTCCATCATA) | 0 | common in clinvar |
Make rs864309653(AGTAATTATTCCATCATA;T) |
Make rs864309653(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88518757 |
Gene | KITLG |
is a | snp |
is | mentioned by |
dbSNP | rs864309653 |
dbSNP (classic) | rs864309653 |
ClinGen | rs864309653 |
ebi | rs864309653 |
HLI | rs864309653 |
Exac | rs864309653 |
Gnomad | rs864309653 |
Varsome | rs864309653 |
LitVar | rs864309653 |
Map | rs864309653 |
PheGenI | rs864309653 |
Biobank | rs864309653 |
1000 genomes | rs864309653 |
hgdp | rs864309653 |
ensembl | rs864309653 |
geneview | rs864309653 |
scholar | rs864309653 |
rs864309653 | |
pharmgkb | rs864309653 |
gwascentral | rs864309653 |
openSNP | rs864309653 |
23andMe | rs864309653 |
SNPshot | rs864309653 |
SNPdbe | rs864309653 |
MSV3d | rs864309653 |
GWAS Ctlg | rs864309653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309653(T;T) |
Alt | rs864309653(T;T) |
Reference | Rs864309653(AGTAATTATTCCATCATA;AGTAATTATTCCATCATA) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | KITLG |
CLNDBN | Deafness, autosomal dominant 69 |
Reversed | 1 |
HGVS | NC_000012.11:g.88912534_88912551del18insA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203239.3, |