rs786201022
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786201022(A;A) |
Make rs786201022(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 2470762 |
Gene | SNRPB |
is a | snp |
is | mentioned by |
dbSNP | rs786201022 |
dbSNP (classic) | rs786201022 |
ClinGen | rs786201022 |
ebi | rs786201022 |
HLI | rs786201022 |
Exac | rs786201022 |
Gnomad | rs786201022 |
Varsome | rs786201022 |
LitVar | rs786201022 |
Map | rs786201022 |
PheGenI | rs786201022 |
Biobank | rs786201022 |
1000 genomes | rs786201022 |
hgdp | rs786201022 |
ensembl | rs786201022 |
geneview | rs786201022 |
scholar | rs786201022 |
rs786201022 | |
pharmgkb | rs786201022 |
gwascentral | rs786201022 |
openSNP | rs786201022 |
23andMe | rs786201022 |
SNPshot | rs786201022 |
SNPdbe | rs786201022 |
MSV3d | rs786201022 |
GWAS Ctlg | rs786201022 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs786201022(A;A) |
Alt | rs786201022(A;A) |
Reference | Rs786201022(C;C) |
Significance | Pathogenic |
Disease | Cerebro-costo-mandibular syndrome |
Variation | info |
Gene | SNRPB |
CLNDBN | Cerebro-costo-mandibular syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.2451408G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162253.3, |