rs180755563
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs180755563(C;G) |
Make rs180755563(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 121530932 |
Gene | CLASP1, LOC107985942, RNU4ATAC |
is a | snp |
is | mentioned by |
dbSNP | rs180755563 |
dbSNP (classic) | rs180755563 |
ClinGen | rs180755563 |
ebi | rs180755563 |
HLI | rs180755563 |
Exac | rs180755563 |
Gnomad | rs180755563 |
Varsome | rs180755563 |
LitVar | rs180755563 |
Map | rs180755563 |
PheGenI | rs180755563 |
Biobank | rs180755563 |
1000 genomes | rs180755563 |
hgdp | rs180755563 |
ensembl | rs180755563 |
geneview | rs180755563 |
scholar | rs180755563 |
rs180755563 | |
pharmgkb | rs180755563 |
gwascentral | rs180755563 |
openSNP | rs180755563 |
23andMe | rs180755563 |
SNPshot | rs180755563 |
SNPdbe | rs180755563 |
MSV3d | rs180755563 |
GWAS Ctlg | rs180755563 |
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 | rs180755563(A;A) rs180755563(G;G) rs180755563(T;T) |
Alt | rs180755563(A;A) rs180755563(G;G) rs180755563(T;T) |
Reference | Rs180755563(C;C) |
Significance | Pathogenic |
Disease | Osteodysplastic primordial dwarfism |
Variation | info |
Gene | CLASP1 RNU4ATAC |
CLNDBN | Osteodysplastic primordial dwarfism, type 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.122288508C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023101.4, |