rs121965061
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 rs121965061(-;-) |
Make rs121965061(-;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 1747323 |
Gene | SERPINF2 |
is a | snp |
is | mentioned by |
dbSNP | rs121965061 |
dbSNP (classic) | rs121965061 |
ClinGen | rs121965061 |
ebi | rs121965061 |
HLI | rs121965061 |
Exac | rs121965061 |
Gnomad | rs121965061 |
Varsome | rs121965061 |
LitVar | rs121965061 |
Map | rs121965061 |
PheGenI | rs121965061 |
Biobank | rs121965061 |
1000 genomes | rs121965061 |
hgdp | rs121965061 |
ensembl | rs121965061 |
geneview | rs121965061 |
scholar | rs121965061 |
rs121965061 | |
pharmgkb | rs121965061 |
gwascentral | rs121965061 |
openSNP | rs121965061 |
23andMe | rs121965061 |
SNPshot | rs121965061 |
SNPdbe | rs121965061 |
MSV3d | rs121965061 |
GWAS Ctlg | rs121965061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965061(-;-) |
Alt | rs121965061(-;-) |
Reference | Rs121965061(AAG;AAG) |
Significance | Pathogenic |
Disease | Anti-plasmin deficiency |
Variation | info |
Gene | SERPINF2 |
CLNDBN | Anti-plasmin deficiency, congenital |
Reversed | 0 |
HGVS | NC_000017.10:g.1650617_1650619delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000299.2, |