rs387906580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs387906580(-;-) |
Make rs387906580(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73447501 |
Gene | AFP |
is a | snp |
is | mentioned by |
dbSNP | rs387906580 |
dbSNP (classic) | rs387906580 |
ClinGen | rs387906580 |
ebi | rs387906580 |
HLI | rs387906580 |
Exac | rs387906580 |
Gnomad | rs387906580 |
Varsome | rs387906580 |
LitVar | rs387906580 |
Map | rs387906580 |
PheGenI | rs387906580 |
Biobank | rs387906580 |
1000 genomes | rs387906580 |
hgdp | rs387906580 |
ensembl | rs387906580 |
geneview | rs387906580 |
scholar | rs387906580 |
rs387906580 | |
pharmgkb | rs387906580 |
gwascentral | rs387906580 |
openSNP | rs387906580 |
23andMe | rs387906580 |
SNPshot | rs387906580 |
SNPdbe | rs387906580 |
MSV3d | rs387906580 |
GWAS Ctlg | rs387906580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906580(-;-) |
Alt | rs387906580(-;-) |
Reference | Rs387906580(CT;CT) |
Significance | Pathogenic |
Disease | Alpha-fetoprotein deficiency |
Variation | info |
Gene | AFP |
CLNDBN | Alpha-fetoprotein deficiency |
Reversed | 0 |
HGVS | NC_000004.11:g.74313218_74313219delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019799.28, |