rs863225423
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863225423(C;C) |
Make rs863225423(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 121530997 |
Gene | CLASP1, LOC107985942, RNU4ATAC |
is a | snp |
is | mentioned by |
dbSNP | rs863225423 |
dbSNP (classic) | rs863225423 |
ClinGen | rs863225423 |
ebi | rs863225423 |
HLI | rs863225423 |
Exac | rs863225423 |
Gnomad | rs863225423 |
Varsome | rs863225423 |
LitVar | rs863225423 |
Map | rs863225423 |
PheGenI | rs863225423 |
Biobank | rs863225423 |
1000 genomes | rs863225423 |
hgdp | rs863225423 |
ensembl | rs863225423 |
geneview | rs863225423 |
scholar | rs863225423 |
rs863225423 | |
pharmgkb | rs863225423 |
gwascentral | rs863225423 |
openSNP | rs863225423 |
23andMe | rs863225423 |
SNPshot | rs863225423 |
SNPdbe | rs863225423 |
MSV3d | rs863225423 |
GWAS Ctlg | rs863225423 |
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 | rs863225423(C;C) |
Alt | rs863225423(C;C) |
Reference | Rs863225423(T;T) |
Significance | Pathogenic |
Disease | Roifman syndrome |
Variation | info |
Gene | CLASP1 RNU4ATAC |
CLNDBN | Roifman syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.122288573T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202310.2, |