rs113994154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113994154(C;T) |
Make rs113994154(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75522108 |
Gene | TSEN54 |
is a | snp |
is | mentioned by |
dbSNP | rs113994154 |
dbSNP (classic) | rs113994154 |
ClinGen | rs113994154 |
ebi | rs113994154 |
HLI | rs113994154 |
Exac | rs113994154 |
Gnomad | rs113994154 |
Varsome | rs113994154 |
LitVar | rs113994154 |
Map | rs113994154 |
PheGenI | rs113994154 |
Biobank | rs113994154 |
1000 genomes | rs113994154 |
hgdp | rs113994154 |
ensembl | rs113994154 |
geneview | rs113994154 |
scholar | rs113994154 |
rs113994154 | |
pharmgkb | rs113994154 |
gwascentral | rs113994154 |
openSNP | rs113994154 |
23andMe | rs113994154 |
SNPshot | rs113994154 |
SNPdbe | rs113994154 |
MSV3d | rs113994154 |
GWAS Ctlg | rs113994154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994154(T;T) |
Alt | rs113994154(T;T) |
Reference | Rs113994154(C;C) |
Significance | Pathogenic |
Disease | Pontocerebellar hypoplasia type 4 |
Variation | info |
Gene | TSEN54 |
CLNDBN | Pontocerebellar hypoplasia type 4 |
Reversed | 0 |
HGVS | NC_000017.10:g.73518189C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002205.2, |