rs201479015
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201479015(A;A) |
Make rs201479015(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 103321029 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs201479015 |
dbSNP (classic) | rs201479015 |
ClinGen | rs201479015 |
ebi | rs201479015 |
HLI | rs201479015 |
Exac | rs201479015 |
Gnomad | rs201479015 |
Varsome | rs201479015 |
LitVar | rs201479015 |
Map | rs201479015 |
PheGenI | rs201479015 |
Biobank | rs201479015 |
1000 genomes | rs201479015 |
hgdp | rs201479015 |
ensembl | rs201479015 |
geneview | rs201479015 |
scholar | rs201479015 |
rs201479015 | |
pharmgkb | rs201479015 |
gwascentral | rs201479015 |
openSNP | rs201479015 |
23andMe | rs201479015 |
SNPshot | rs201479015 |
SNPdbe | rs201479015 |
MSV3d | rs201479015 |
GWAS Ctlg | rs201479015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201479015(A;A) |
Alt | rs201479015(A;A) |
Reference | Rs201479015(G;G) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 3 with or without polydactyly not specified |
Variation | info |
Gene | DYNC2H1 |
CLNDBN | Short-rib thoracic dysplasia 3 with or without polydactyly not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.103191758G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023292.4, RCV000180413.1, |