rs754919042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754919042(A;A) |
Make rs754919042(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 103173242 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs754919042 |
dbSNP (classic) | rs754919042 |
ClinGen | rs754919042 |
ebi | rs754919042 |
HLI | rs754919042 |
Exac | rs754919042 |
Gnomad | rs754919042 |
Varsome | rs754919042 |
LitVar | rs754919042 |
Map | rs754919042 |
PheGenI | rs754919042 |
Biobank | rs754919042 |
1000 genomes | rs754919042 |
hgdp | rs754919042 |
ensembl | rs754919042 |
geneview | rs754919042 |
scholar | rs754919042 |
rs754919042 | |
pharmgkb | rs754919042 |
gwascentral | rs754919042 |
openSNP | rs754919042 |
23andMe | rs754919042 |
SNPshot | rs754919042 |
SNPdbe | rs754919042 |
MSV3d | rs754919042 |
GWAS Ctlg | rs754919042 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754919042(A;A) rs754919042(T;T) |
Alt | rs754919042(A;A) rs754919042(T;T) |
Reference | Rs754919042(C;C) |
Significance | Pathogenic |
Disease | Jeune thoracic dystrophy |
Variation | info |
Gene | DYNC2H1 |
CLNDBN | Jeune thoracic dystrophy |
Reversed | 0 |
HGVS | NC_000011.9:g.103043971C>A |
CLNSRC | |
CLNACC | RCV000228263.2, |