rs869025220
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025220(-;-) |
Make rs869025220(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 1338094 |
Gene | DVL1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025220 |
dbSNP (classic) | rs869025220 |
ClinGen | rs869025220 |
ebi | rs869025220 |
HLI | rs869025220 |
Exac | rs869025220 |
Gnomad | rs869025220 |
Varsome | rs869025220 |
LitVar | rs869025220 |
Map | rs869025220 |
PheGenI | rs869025220 |
Biobank | rs869025220 |
1000 genomes | rs869025220 |
hgdp | rs869025220 |
ensembl | rs869025220 |
geneview | rs869025220 |
scholar | rs869025220 |
rs869025220 | |
pharmgkb | rs869025220 |
gwascentral | rs869025220 |
openSNP | rs869025220 |
23andMe | rs869025220 |
SNPshot | rs869025220 |
SNPdbe | rs869025220 |
MSV3d | rs869025220 |
GWAS Ctlg | rs869025220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025220(-;-) |
Alt | rs869025220(-;-) |
Reference | Rs869025220(C;C) |
Significance | Pathogenic |
Disease | Robinow syndrome |
Variation | info |
Gene | DVL1 |
CLNDBN | Robinow syndrome, autosomal dominant 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.1273474delG |
CLNSRC | |
CLNACC | RCV000208706.1, |