rs864321718
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864321718(C;G) |
Make rs864321718(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 39370222 |
Gene | KIF21A |
is a | snp |
is | mentioned by |
dbSNP | rs864321718 |
dbSNP (classic) | rs864321718 |
ClinGen | rs864321718 |
ebi | rs864321718 |
HLI | rs864321718 |
Exac | rs864321718 |
Gnomad | rs864321718 |
Varsome | rs864321718 |
LitVar | rs864321718 |
Map | rs864321718 |
PheGenI | rs864321718 |
Biobank | rs864321718 |
1000 genomes | rs864321718 |
hgdp | rs864321718 |
ensembl | rs864321718 |
geneview | rs864321718 |
scholar | rs864321718 |
rs864321718 | |
pharmgkb | rs864321718 |
gwascentral | rs864321718 |
openSNP | rs864321718 |
23andMe | rs864321718 |
SNPshot | rs864321718 |
SNPdbe | rs864321718 |
MSV3d | rs864321718 |
GWAS Ctlg | rs864321718 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321718(G;G) |
Alt | rs864321718(G;G) |
Reference | Rs864321718(C;C) |
Significance | Pathogenic |
Disease | Fibrosis of extraocular muscles |
Variation | info |
Gene | KIF21A |
CLNDBN | Fibrosis of extraocular muscles, congenital, 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.39764024G>C |
CLNSRC | |
CLNACC | RCV000203609.1, |