rs267607200
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607200(A;A) |
Make rs267607200(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 39332606 |
Gene | KIF21A |
is a | snp |
is | mentioned by |
dbSNP | rs267607200 |
dbSNP (classic) | rs267607200 |
ClinGen | rs267607200 |
ebi | rs267607200 |
HLI | rs267607200 |
Exac | rs267607200 |
Gnomad | rs267607200 |
Varsome | rs267607200 |
LitVar | rs267607200 |
Map | rs267607200 |
PheGenI | rs267607200 |
Biobank | rs267607200 |
1000 genomes | rs267607200 |
hgdp | rs267607200 |
ensembl | rs267607200 |
geneview | rs267607200 |
scholar | rs267607200 |
rs267607200 | |
pharmgkb | rs267607200 |
gwascentral | rs267607200 |
openSNP | rs267607200 |
23andMe | rs267607200 |
SNPshot | rs267607200 |
SNPdbe | rs267607200 |
MSV3d | rs267607200 |
GWAS Ctlg | rs267607200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607200(A;A) |
Alt | rs267607200(A;A) |
Reference | Rs267607200(G;G) |
Significance | Pathogenic |
Disease | Fibrosis of extraocular muscles |
Variation | info |
Gene | KIF21A |
CLNDBN | Fibrosis of extraocular muscles, congenital, 3b |
Reversed | 1 |
HGVS | NC_000012.11:g.39726408C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002546.2, |