rs797044833
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs797044833(C;C) |
Make rs797044833(C;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 1338045 |
Gene | DVL1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044833 |
dbSNP (classic) | rs797044833 |
ClinGen | rs797044833 |
ebi | rs797044833 |
HLI | rs797044833 |
Exac | rs797044833 |
Gnomad | rs797044833 |
Varsome | rs797044833 |
LitVar | rs797044833 |
Map | rs797044833 |
PheGenI | rs797044833 |
Biobank | rs797044833 |
1000 genomes | rs797044833 |
hgdp | rs797044833 |
ensembl | rs797044833 |
geneview | rs797044833 |
scholar | rs797044833 |
rs797044833 | |
pharmgkb | rs797044833 |
gwascentral | rs797044833 |
openSNP | rs797044833 |
23andMe | rs797044833 |
SNPshot | rs797044833 |
SNPdbe | rs797044833 |
MSV3d | rs797044833 |
GWAS Ctlg | rs797044833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044833(C;C) |
Alt | rs797044833(C;C) |
Reference | Rs797044833(TT;TT) |
Significance | Pathogenic |
Disease | Robinow syndrome |
Variation | info |
Gene | DVL1 |
CLNDBN | Robinow syndrome, autosomal dominant 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.1273425_1273426delAAinsG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000192810.3, |