rs763500364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763500364(A;A) |
Make rs763500364(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 121530990 |
Gene | CLASP1, LOC107985942, RNU4ATAC |
is a | snp |
is | mentioned by |
dbSNP | rs763500364 |
dbSNP (classic) | rs763500364 |
ClinGen | rs763500364 |
ebi | rs763500364 |
HLI | rs763500364 |
Exac | rs763500364 |
Gnomad | rs763500364 |
Varsome | rs763500364 |
LitVar | rs763500364 |
Map | rs763500364 |
PheGenI | rs763500364 |
Biobank | rs763500364 |
1000 genomes | rs763500364 |
hgdp | rs763500364 |
ensembl | rs763500364 |
geneview | rs763500364 |
scholar | rs763500364 |
rs763500364 | |
pharmgkb | rs763500364 |
gwascentral | rs763500364 |
openSNP | rs763500364 |
23andMe | rs763500364 |
SNPshot | rs763500364 |
SNPdbe | rs763500364 |
MSV3d | rs763500364 |
GWAS Ctlg | rs763500364 |
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 | rs763500364(A;A) rs763500364(T;T) |
Alt | rs763500364(A;A) rs763500364(T;T) |
Reference | Rs763500364(G;G) |
Significance | Pathogenic |
Disease | Osteodysplastic primordial dwarfism |
Variation | info |
Gene | CLASP1 RNU4ATAC |
CLNDBN | Osteodysplastic primordial dwarfism, type 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.122288566G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023099.5, |