rs797044468
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797044468(-;-) |
Make rs797044468(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 72229677 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044468 |
dbSNP (classic) | rs797044468 |
ClinGen | rs797044468 |
ebi | rs797044468 |
HLI | rs797044468 |
Exac | rs797044468 |
Gnomad | rs797044468 |
Varsome | rs797044468 |
LitVar | rs797044468 |
Map | rs797044468 |
PheGenI | rs797044468 |
Biobank | rs797044468 |
1000 genomes | rs797044468 |
hgdp | rs797044468 |
ensembl | rs797044468 |
geneview | rs797044468 |
scholar | rs797044468 |
rs797044468 | |
pharmgkb | rs797044468 |
gwascentral | rs797044468 |
openSNP | rs797044468 |
23andMe | rs797044468 |
SNPshot | rs797044468 |
SNPdbe | rs797044468 |
MSV3d | rs797044468 |
GWAS Ctlg | rs797044468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044468(-;-) |
Alt | rs797044468(-;-) |
Reference | Rs797044468(A;A) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71940721delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032671.6, |