rs786201020
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786201020(C;C) |
Make rs786201020(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 2467305 |
Gene | SNRPB |
is a | snp |
is | mentioned by |
dbSNP | rs786201020 |
dbSNP (classic) | rs786201020 |
ClinGen | rs786201020 |
ebi | rs786201020 |
HLI | rs786201020 |
Exac | rs786201020 |
Gnomad | rs786201020 |
Varsome | rs786201020 |
LitVar | rs786201020 |
Map | rs786201020 |
PheGenI | rs786201020 |
Biobank | rs786201020 |
1000 genomes | rs786201020 |
hgdp | rs786201020 |
ensembl | rs786201020 |
geneview | rs786201020 |
scholar | rs786201020 |
rs786201020 | |
pharmgkb | rs786201020 |
gwascentral | rs786201020 |
openSNP | rs786201020 |
23andMe | rs786201020 |
SNPshot | rs786201020 |
SNPdbe | rs786201020 |
MSV3d | rs786201020 |
GWAS Ctlg | rs786201020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786201020(C;C) rs786201020(T;T) |
Alt | rs786201020(C;C) rs786201020(T;T) |
Reference | Rs786201020(G;G) |
Significance | Pathogenic |
Disease | Cerebro-costo-mandibular syndrome |
Variation | info |
Gene | SNRPB |
CLNDBN | Cerebro-costo-mandibular syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.2447951C>A; NC_000020.10:g.2447951C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162251.3, RCV000162250.3, |