rs119477055
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119477055(C;T) |
Make rs119477055(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 43048394 |
Gene | UBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs119477055 |
dbSNP (classic) | rs119477055 |
ClinGen | rs119477055 |
ebi | rs119477055 |
HLI | rs119477055 |
Exac | rs119477055 |
Gnomad | rs119477055 |
Varsome | rs119477055 |
LitVar | rs119477055 |
Map | rs119477055 |
PheGenI | rs119477055 |
Biobank | rs119477055 |
1000 genomes | rs119477055 |
hgdp | rs119477055 |
ensembl | rs119477055 |
geneview | rs119477055 |
scholar | rs119477055 |
rs119477055 | |
pharmgkb | rs119477055 |
gwascentral | rs119477055 |
openSNP | rs119477055 |
23andMe | rs119477055 |
SNPshot | rs119477055 |
SNPdbe | rs119477055 |
MSV3d | rs119477055 |
GWAS Ctlg | rs119477055 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119477055(T;T) |
Alt | rs119477055(T;T) |
Reference | Rs119477055(C;C) |
Significance | Pathogenic |
Disease | Johanson-Blizzard syndrome |
Variation | info |
Gene | UBR1 |
CLNDBN | Johanson-Blizzard syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.43340592G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004944.2, |