rs121918034
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs121918034(-;-) |
Make rs121918034(-;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 160716667 |
Gene | PLG |
is a | snp |
is | mentioned by |
dbSNP | rs121918034 |
dbSNP (classic) | rs121918034 |
ClinGen | rs121918034 |
ebi | rs121918034 |
HLI | rs121918034 |
Exac | rs121918034 |
Gnomad | rs121918034 |
Varsome | rs121918034 |
LitVar | rs121918034 |
Map | rs121918034 |
PheGenI | rs121918034 |
Biobank | rs121918034 |
1000 genomes | rs121918034 |
hgdp | rs121918034 |
ensembl | rs121918034 |
geneview | rs121918034 |
scholar | rs121918034 |
rs121918034 | |
pharmgkb | rs121918034 |
gwascentral | rs121918034 |
openSNP | rs121918034 |
23andMe | rs121918034 |
SNPshot | rs121918034 |
SNPdbe | rs121918034 |
MSV3d | rs121918034 |
GWAS Ctlg | rs121918034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918034(-;-) |
Alt | rs121918034(-;-) |
Reference | Rs121918034(GAA;GAA) |
Significance | Pathogenic |
Disease | Plasminogen deficiency |
Variation | info |
Gene | PLG |
CLNDBN | Plasminogen deficiency, type I |
Reversed | 0 |
HGVS | NC_000006.11:g.161137699_161137701delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014549.25, |