rs878853271
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs878853271(A;T) |
Make rs878853271(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 1506984 |
Gene | TELO2 |
is a | snp |
is | mentioned by |
dbSNP | rs878853271 |
dbSNP (classic) | rs878853271 |
ClinGen | rs878853271 |
ebi | rs878853271 |
HLI | rs878853271 |
Exac | rs878853271 |
Gnomad | rs878853271 |
Varsome | rs878853271 |
LitVar | rs878853271 |
Map | rs878853271 |
PheGenI | rs878853271 |
Biobank | rs878853271 |
1000 genomes | rs878853271 |
hgdp | rs878853271 |
ensembl | rs878853271 |
geneview | rs878853271 |
scholar | rs878853271 |
rs878853271 | |
pharmgkb | rs878853271 |
gwascentral | rs878853271 |
openSNP | rs878853271 |
23andMe | rs878853271 |
SNPshot | rs878853271 |
SNPdbe | rs878853271 |
MSV3d | rs878853271 |
GWAS Ctlg | rs878853271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853271(T;T) |
Alt | rs878853271(T;T) |
Reference | Rs878853271(A;A) |
Significance | Pathogenic |
Disease | You-Hoover-Fong syndrome |
Variation | info |
Gene | TELO2 |
CLNDBN | You-Hoover-Fong syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.1556985A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000225104.2, |