rs746647683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs746647683(-;-) |
Make rs746647683(-;AG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 72229677 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs746647683 |
dbSNP (classic) | rs746647683 |
ClinGen | rs746647683 |
ebi | rs746647683 |
HLI | rs746647683 |
Exac | rs746647683 |
Gnomad | rs746647683 |
Varsome | rs746647683 |
LitVar | rs746647683 |
Map | rs746647683 |
PheGenI | rs746647683 |
Biobank | rs746647683 |
1000 genomes | rs746647683 |
hgdp | rs746647683 |
ensembl | rs746647683 |
geneview | rs746647683 |
scholar | rs746647683 |
rs746647683 | |
pharmgkb | rs746647683 |
gwascentral | rs746647683 |
openSNP | rs746647683 |
23andMe | rs746647683 |
SNPshot | rs746647683 |
SNPdbe | rs746647683 |
MSV3d | rs746647683 |
GWAS Ctlg | rs746647683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746647683(-;-) |
Alt | rs746647683(-;-) |
Reference | Rs746647683(AG;AG) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71940721_71940722delAG |
CLNSRC | |
CLNACC | RCV000224566.1, RCV000224914.1, |