rs878853121
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCTC;ACCTC) | 0 | common in clinvar |
(TCACC;TCACC) | 0 | common in clinvar |
Make rs878853121(-;-) |
Make rs878853121(-;ACCTC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 72232311 |
Gene | INPPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853121 |
dbSNP (classic) | rs878853121 |
ClinGen | rs878853121 |
ebi | rs878853121 |
HLI | rs878853121 |
Exac | rs878853121 |
Gnomad | rs878853121 |
Varsome | rs878853121 |
LitVar | rs878853121 |
Map | rs878853121 |
PheGenI | rs878853121 |
Biobank | rs878853121 |
1000 genomes | rs878853121 |
hgdp | rs878853121 |
ensembl | rs878853121 |
geneview | rs878853121 |
scholar | rs878853121 |
rs878853121 | |
pharmgkb | rs878853121 |
gwascentral | rs878853121 |
openSNP | rs878853121 |
23andMe | rs878853121 |
SNPshot | rs878853121 |
SNPdbe | rs878853121 |
MSV3d | rs878853121 |
GWAS Ctlg | rs878853121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853121(-;-) Rs878853121(TCACC;TCACC) |
Alt | rs878853121(-;-) Rs878853121(TCACC;TCACC) |
Reference | Rs878853121(ACCTC;ACCTC) |
Significance | Pathogenic |
Disease | Opsismodysplasia |
Variation | info |
Gene | INPPL1 |
CLNDBN | Opsismodysplasia |
Reversed | 0 |
HGVS | NC_000011.9:g.71943355_71943359delACCTC |
CLNSRC | |
CLNACC | RCV000224773.1, |