rs655423
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs655423(C;C) |
Make rs655423(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 72234616 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs655423 |
dbSNP (classic) | rs655423 |
ClinGen | rs655423 |
ebi | rs655423 |
HLI | rs655423 |
Exac | rs655423 |
Gnomad | rs655423 |
Varsome | rs655423 |
LitVar | rs655423 |
Map | rs655423 |
PheGenI | rs655423 |
Biobank | rs655423 |
1000 genomes | rs655423 |
hgdp | rs655423 |
ensembl | rs655423 |
geneview | rs655423 |
scholar | rs655423 |
rs655423 | |
pharmgkb | rs655423 |
gwascentral | rs655423 |
openSNP | rs655423 |
23andMe | rs655423 |
SNPshot | rs655423 |
SNPdbe | rs655423 |
MSV3d | rs655423 |
GWAS Ctlg | rs655423 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs655423(A;A) rs655423(C;C) |
Alt | rs655423(A;A) rs655423(C;C) |
Reference | Rs655423(G;G) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71945660G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032672.5, RCV000224914.1, |