rs786205645
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs786205645(-;-) |
Make rs786205645(-;AT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 169508827 |
Gene | NEK1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205645 |
dbSNP (classic) | rs786205645 |
ClinGen | rs786205645 |
ebi | rs786205645 |
HLI | rs786205645 |
Exac | rs786205645 |
Gnomad | rs786205645 |
Varsome | rs786205645 |
LitVar | rs786205645 |
Map | rs786205645 |
PheGenI | rs786205645 |
Biobank | rs786205645 |
1000 genomes | rs786205645 |
hgdp | rs786205645 |
ensembl | rs786205645 |
geneview | rs786205645 |
scholar | rs786205645 |
rs786205645 | |
pharmgkb | rs786205645 |
gwascentral | rs786205645 |
openSNP | rs786205645 |
23andMe | rs786205645 |
SNPshot | rs786205645 |
SNPdbe | rs786205645 |
MSV3d | rs786205645 |
GWAS Ctlg | rs786205645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205645(-;-) |
Alt | rs786205645(-;-) |
Reference | Rs786205645(AT;AT) |
Significance | Pathogenic |
Disease | not provided Short-rib thoracic dysplasia 3 with or without polydactyly |
Variation | info |
Gene | NEK1 |
CLNDBN | not provided Short-rib thoracic dysplasia 3 with or without polydactyly |
Reversed | 1 |
HGVS | NC_000004.11:g.170429978_170429979delAT |
CLNSRC | |
CLNACC | RCV000171517.1, RCV000256463.1, |