rs863223282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863223282(-;-) |
Make rs863223282(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 94027795 |
Gene | GPC6 |
is a | snp |
is | mentioned by |
dbSNP | rs863223282 |
dbSNP (classic) | rs863223282 |
ClinGen | rs863223282 |
ebi | rs863223282 |
HLI | rs863223282 |
Exac | rs863223282 |
Gnomad | rs863223282 |
Varsome | rs863223282 |
LitVar | rs863223282 |
Map | rs863223282 |
PheGenI | rs863223282 |
Biobank | rs863223282 |
1000 genomes | rs863223282 |
hgdp | rs863223282 |
ensembl | rs863223282 |
geneview | rs863223282 |
scholar | rs863223282 |
rs863223282 | |
pharmgkb | rs863223282 |
gwascentral | rs863223282 |
openSNP | rs863223282 |
23andMe | rs863223282 |
SNPshot | rs863223282 |
SNPdbe | rs863223282 |
MSV3d | rs863223282 |
GWAS Ctlg | rs863223282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223282(-;-) |
Alt | rs863223282(-;-) |
Reference | Rs863223282(C;C) |
Significance | Pathogenic |
Disease | Omodysplasia 1 |
Variation | info |
Gene | GPC6 |
CLNDBN | Omodysplasia 1 |
Reversed | 0 |
HGVS | NC_000013.10:g.94680049delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005888.3, |