rs797044470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGCCGCGGAGGAGCTGCTGGCCCGGGCG;GGCCGCGGAGGAGCTGCTGGCCCGGGCG) | 0 | common in clinvar |
Make rs797044470(-;-) |
Make rs797044470(-;GAGGAGCTGCTGGCCCGGGCGGGCCGCG) |
Make rs797044470(GAGGAGCTGCTGGCCCGGGCGGGCCGCG;GAGGAGCTGCTGGCCCGGGCGGGCCGCG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 72225078 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044470 |
dbSNP (classic) | rs797044470 |
ClinGen | rs797044470 |
ebi | rs797044470 |
HLI | rs797044470 |
Exac | rs797044470 |
Gnomad | rs797044470 |
Varsome | rs797044470 |
LitVar | rs797044470 |
Map | rs797044470 |
PheGenI | rs797044470 |
Biobank | rs797044470 |
1000 genomes | rs797044470 |
hgdp | rs797044470 |
ensembl | rs797044470 |
geneview | rs797044470 |
scholar | rs797044470 |
rs797044470 | |
pharmgkb | rs797044470 |
gwascentral | rs797044470 |
openSNP | rs797044470 |
23andMe | rs797044470 |
SNPshot | rs797044470 |
SNPdbe | rs797044470 |
MSV3d | rs797044470 |
GWAS Ctlg | rs797044470 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044470(-;-) |
Alt | rs797044470(-;-) |
Reference | Rs797044470(GGCCGCGGAGGAGCTGCTGGCCCGGGCG;GGCCGCGGAGGAGCTGCTGGCCCGGGCG) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71936122_71936149del28 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032677.3, |