rs587776876
From SNPedia
Merged into | rs199422263 |
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AACTG;AACTG) | 0 | common in clinvar |
(AGTT;AGTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776876(-;-) |
Make rs587776876(-;AGTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 169765004 |
Gene | TERC |
is a | snp |
is | mentioned by |
dbSNP | rs587776876 |
dbSNP (classic) | rs587776876 |
ClinGen | rs587776876 |
ebi | rs587776876 |
HLI | rs587776876 |
Exac | rs587776876 |
Gnomad | rs587776876 |
Varsome | rs587776876 |
LitVar | rs587776876 |
Map | rs587776876 |
PheGenI | rs587776876 |
Biobank | rs587776876 |
1000 genomes | rs587776876 |
hgdp | rs587776876 |
ensembl | rs587776876 |
geneview | rs587776876 |
scholar | rs587776876 |
rs587776876 | |
pharmgkb | rs587776876 |
gwascentral | rs587776876 |
openSNP | rs587776876 |
23andMe | rs587776876 |
SNPshot | rs587776876 |
SNPdbe | rs587776876 |
MSV3d | rs587776876 |
GWAS Ctlg | rs587776876 |
Status | Merged into rs199422263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776876(AGTTG;AGTTG) rs587776876(G;G) |
Alt | rs587776876(AGTTG;AGTTG) rs587776876(G;G) |
Reference | Rs587776876(AACTG;AACTG) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita autosomal dominant |
Variation | info |
Gene | TERC |
CLNDBN | Dyskeratosis congenita autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.169482792_169482795delAGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023192.5, |