rs797044839
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044839(-;-) |
Make rs797044839(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 1338054 |
Gene | DVL1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044839 |
dbSNP (classic) | rs797044839 |
ClinGen | rs797044839 |
ebi | rs797044839 |
HLI | rs797044839 |
Exac | rs797044839 |
Gnomad | rs797044839 |
Varsome | rs797044839 |
LitVar | rs797044839 |
Map | rs797044839 |
PheGenI | rs797044839 |
Biobank | rs797044839 |
1000 genomes | rs797044839 |
hgdp | rs797044839 |
ensembl | rs797044839 |
geneview | rs797044839 |
scholar | rs797044839 |
rs797044839 | |
pharmgkb | rs797044839 |
gwascentral | rs797044839 |
openSNP | rs797044839 |
23andMe | rs797044839 |
SNPshot | rs797044839 |
SNPdbe | rs797044839 |
MSV3d | rs797044839 |
GWAS Ctlg | rs797044839 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044839(-;-) |
Alt | rs797044839(-;-) |
Reference | Rs797044839(C;C) |
Significance | Pathogenic |
Disease | Robinow syndrome |
Variation | info |
Gene | DVL1 |
CLNDBN | Robinow syndrome, autosomal dominant 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.1273434delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000193267.3, |