rs199422287
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199422287(A;A) |
Make rs199422287(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 169764611 |
Gene | TERC |
is a | snp |
is | mentioned by |
dbSNP | rs199422287 |
dbSNP (classic) | rs199422287 |
ClinGen | rs199422287 |
ebi | rs199422287 |
HLI | rs199422287 |
Exac | rs199422287 |
Gnomad | rs199422287 |
Varsome | rs199422287 |
LitVar | rs199422287 |
Map | rs199422287 |
PheGenI | rs199422287 |
Biobank | rs199422287 |
1000 genomes | rs199422287 |
hgdp | rs199422287 |
ensembl | rs199422287 |
geneview | rs199422287 |
scholar | rs199422287 |
rs199422287 | |
pharmgkb | rs199422287 |
gwascentral | rs199422287 |
openSNP | rs199422287 |
23andMe | rs199422287 |
SNPshot | rs199422287 |
SNPdbe | rs199422287 |
MSV3d | rs199422287 |
GWAS Ctlg | rs199422287 |
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 | rs199422287(A;A) |
Alt | rs199422287(A;A) |
Reference | Rs199422287(G;G) |
Significance | Pathogenic |
Disease | Aplastic anemia Dyskeratosis congenita autosomal dominant |
Variation | info |
Gene | TERC |
CLNDBN | Aplastic anemia Dyskeratosis congenita autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.169482399C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032576.1, RCV000467315.1, |