rs1057518647
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGGGGAC;CGGGGAC) | 0 | common in clinvar |
Make rs1057518647(-;-) |
Make rs1057518647(-;CGGGGAC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 21019728 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs1057518647 |
dbSNP (classic) | rs1057518647 |
ClinGen | rs1057518647 |
ebi | rs1057518647 |
HLI | rs1057518647 |
Exac | rs1057518647 |
Gnomad | rs1057518647 |
Varsome | rs1057518647 |
LitVar | rs1057518647 |
Map | rs1057518647 |
PheGenI | rs1057518647 |
Biobank | rs1057518647 |
1000 genomes | rs1057518647 |
hgdp | rs1057518647 |
ensembl | rs1057518647 |
geneview | rs1057518647 |
scholar | rs1057518647 |
rs1057518647 | |
pharmgkb | rs1057518647 |
gwascentral | rs1057518647 |
openSNP | rs1057518647 |
23andMe | rs1057518647 |
SNPshot | rs1057518647 |
SNPdbe | rs1057518647 |
MSV3d | rs1057518647 |
GWAS Ctlg | rs1057518647 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518647(-;-) |
Alt | rs1057518647(-;-) |
Reference | Rs1057518647(CGGGGAC;CGGGGAC) |
Significance | Pathogenic |
Disease | Hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Hypobetalipoproteinemia, familial, 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.21242600_21242606delGTCCCCG |
CLNSRC | |
CLNACC | RCV000415324.1, |