rs1057519058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519058(A;G) |
Make rs1057519058(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 53467923 |
Gene | DCC |
is a | snp |
is | mentioned by |
dbSNP | rs1057519058 |
dbSNP (classic) | rs1057519058 |
ClinGen | rs1057519058 |
ebi | rs1057519058 |
HLI | rs1057519058 |
Exac | rs1057519058 |
Gnomad | rs1057519058 |
Varsome | rs1057519058 |
LitVar | rs1057519058 |
Map | rs1057519058 |
PheGenI | rs1057519058 |
Biobank | rs1057519058 |
1000 genomes | rs1057519058 |
hgdp | rs1057519058 |
ensembl | rs1057519058 |
geneview | rs1057519058 |
scholar | rs1057519058 |
rs1057519058 | |
pharmgkb | rs1057519058 |
gwascentral | rs1057519058 |
openSNP | rs1057519058 |
23andMe | rs1057519058 |
SNPshot | rs1057519058 |
SNPdbe | rs1057519058 |
MSV3d | rs1057519058 |
GWAS Ctlg | rs1057519058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519058(G;G) |
Alt | rs1057519058(G;G) |
Reference | Rs1057519058(A;A) |
Significance | Pathogenic |
Disease | Corpus callosum agenesis |
Variation | info |
Gene | DCC |
CLNDBN | Corpus callosum agenesis |
Reversed | 0 |
HGVS | NC_000018.9:g.50994293A>G |
CLNSRC | |
CLNACC | RCV000416369.1, |