rs387906982
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906982(C;C) |
Make rs387906982(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 39185739 |
Gene | WDR19 |
is a | snp |
is | mentioned by |
dbSNP | rs387906982 |
dbSNP (classic) | rs387906982 |
ClinGen | rs387906982 |
ebi | rs387906982 |
HLI | rs387906982 |
Exac | rs387906982 |
Gnomad | rs387906982 |
Varsome | rs387906982 |
LitVar | rs387906982 |
Map | rs387906982 |
PheGenI | rs387906982 |
Biobank | rs387906982 |
1000 genomes | rs387906982 |
hgdp | rs387906982 |
ensembl | rs387906982 |
geneview | rs387906982 |
scholar | rs387906982 |
rs387906982 | |
pharmgkb | rs387906982 |
gwascentral | rs387906982 |
openSNP | rs387906982 |
23andMe | rs387906982 |
SNPshot | rs387906982 |
SNPdbe | rs387906982 |
MSV3d | rs387906982 |
GWAS Ctlg | rs387906982 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906982(C;C) |
Alt | rs387906982(C;C) |
Reference | Rs387906982(T;T) |
Significance | Pathogenic |
Disease | Asphyxiating thoracic dystrophy 5 |
Variation | info |
Gene | WDR19 |
CLNDBN | Asphyxiating thoracic dystrophy 5 |
Reversed | 0 |
HGVS | NC_000004.11:g.39187359T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023683.4, |