rs606231236
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GG) | 3 | Carrier of a hypobetalipoproteinemia mutation |
Make rs606231236(GG;GG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 21033517 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs606231236 |
dbSNP (classic) | rs606231236 |
ClinGen | rs606231236 |
ebi | rs606231236 |
HLI | rs606231236 |
Exac | rs606231236 |
Gnomad | rs606231236 |
Varsome | rs606231236 |
LitVar | rs606231236 |
Map | rs606231236 |
PheGenI | rs606231236 |
Biobank | rs606231236 |
1000 genomes | rs606231236 |
hgdp | rs606231236 |
ensembl | rs606231236 |
geneview | rs606231236 |
scholar | rs606231236 |
rs606231236 | |
pharmgkb | rs606231236 |
gwascentral | rs606231236 |
openSNP | rs606231236 |
23andMe | rs606231236 |
SNPshot | rs606231236 |
SNPdbe | rs606231236 |
MSV3d | rs606231236 |
GWAS Ctlg | rs606231236 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs606231236(GG;GG) |
Alt | rs606231236(GG;GG) |
Reference | Rs606231236(-;-) |
Significance | Pathogenic |
Disease | Familial hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21256390_21256391dupCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032601.27, |