rs201387914
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201387914(A;G) |
Make rs201387914(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11200714 |
Gene | DOCK6 |
is a | snp |
is | mentioned by |
dbSNP | rs201387914 |
dbSNP (classic) | rs201387914 |
ClinGen | rs201387914 |
ebi | rs201387914 |
HLI | rs201387914 |
Exac | rs201387914 |
Gnomad | rs201387914 |
Varsome | rs201387914 |
LitVar | rs201387914 |
Map | rs201387914 |
PheGenI | rs201387914 |
Biobank | rs201387914 |
1000 genomes | rs201387914 |
hgdp | rs201387914 |
ensembl | rs201387914 |
geneview | rs201387914 |
scholar | rs201387914 |
rs201387914 | |
pharmgkb | rs201387914 |
gwascentral | rs201387914 |
openSNP | rs201387914 |
23andMe | rs201387914 |
SNPshot | rs201387914 |
SNPdbe | rs201387914 |
MSV3d | rs201387914 |
GWAS Ctlg | rs201387914 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201387914(G;G) |
Alt | rs201387914(G;G) |
Reference | Rs201387914(A;A) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome 2 |
Variation | info |
Gene | DOCK6 |
CLNDBN | Adams-Oliver syndrome 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.11311390A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239583.1, |