rs869320620
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869320620(A;A) |
Make rs869320620(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 2135501 |
Gene | IGF2, INS-IGF2, MIR483 |
is a | snp |
is | mentioned by |
dbSNP | rs869320620 |
dbSNP (classic) | rs869320620 |
ClinGen | rs869320620 |
ebi | rs869320620 |
HLI | rs869320620 |
Exac | rs869320620 |
Gnomad | rs869320620 |
Varsome | rs869320620 |
LitVar | rs869320620 |
Map | rs869320620 |
PheGenI | rs869320620 |
Biobank | rs869320620 |
1000 genomes | rs869320620 |
hgdp | rs869320620 |
ensembl | rs869320620 |
geneview | rs869320620 |
scholar | rs869320620 |
rs869320620 | |
pharmgkb | rs869320620 |
gwascentral | rs869320620 |
openSNP | rs869320620 |
23andMe | rs869320620 |
SNPshot | rs869320620 |
SNPdbe | rs869320620 |
MSV3d | rs869320620 |
GWAS Ctlg | rs869320620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320620(A;A) |
Alt | rs869320620(A;A) |
Reference | Rs869320620(C;C) |
Significance | Pathogenic |
Disease | Growth restriction |
Variation | info |
Gene | MIR483 IGF2 INS-IGF2 |
CLNDBN | Growth restriction, severe, with distinctive facies |
Reversed | 1 |
HGVS | NC_000011.9:g.2156731G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186560.2, |