rs199422262
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199422262(A;G) |
Make rs199422262(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 169765013 |
Gene | TERC |
is a | snp |
is | mentioned by |
dbSNP | rs199422262 |
dbSNP (classic) | rs199422262 |
ClinGen | rs199422262 |
ebi | rs199422262 |
HLI | rs199422262 |
Exac | rs199422262 |
Gnomad | rs199422262 |
Varsome | rs199422262 |
LitVar | rs199422262 |
Map | rs199422262 |
PheGenI | rs199422262 |
Biobank | rs199422262 |
1000 genomes | rs199422262 |
hgdp | rs199422262 |
ensembl | rs199422262 |
geneview | rs199422262 |
scholar | rs199422262 |
rs199422262 | |
pharmgkb | rs199422262 |
gwascentral | rs199422262 |
openSNP | rs199422262 |
23andMe | rs199422262 |
SNPshot | rs199422262 |
SNPdbe | rs199422262 |
MSV3d | rs199422262 |
GWAS Ctlg | rs199422262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422262(G;G) |
Alt | rs199422262(G;G) |
Reference | Rs199422262(A;A) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita autosomal dominant |
Variation | info |
Gene | TERC |
CLNDBN | Dyskeratosis congenita autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.169482801T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032577.1, |