rs786201012
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 3 | Carrier of a Meckel syndrome mutation (type 12) |
(GA;GA) | 0 | common in clinvar |
Make rs786201012(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 200603951 |
Gene | KIF14 |
is a | snp |
is | mentioned by |
dbSNP | rs786201012 |
dbSNP (classic) | rs786201012 |
ClinGen | rs786201012 |
ebi | rs786201012 |
HLI | rs786201012 |
Exac | rs786201012 |
Gnomad | rs786201012 |
Varsome | rs786201012 |
LitVar | rs786201012 |
Map | rs786201012 |
PheGenI | rs786201012 |
Biobank | rs786201012 |
1000 genomes | rs786201012 |
hgdp | rs786201012 |
ensembl | rs786201012 |
geneview | rs786201012 |
scholar | rs786201012 |
rs786201012 | |
pharmgkb | rs786201012 |
gwascentral | rs786201012 |
openSNP | rs786201012 |
23andMe | rs786201012 |
SNPshot | rs786201012 |
SNPdbe | rs786201012 |
MSV3d | rs786201012 |
GWAS Ctlg | rs786201012 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786201012(-;-) |
Alt | rs786201012(-;-) |
Reference | Rs786201012(GA;GA) |
Significance | Pathogenic |
Disease | Meckel syndrome 12 |
Variation | info |
Gene | KIF14 |
CLNDBN | Meckel syndrome 12 |
Reversed | 1 |
HGVS | NC_000001.10:g.200573079_200573080delTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162210.3, |