rs121909582
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909582(C;T) |
Make rs121909582(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 7070184 |
Gene | C1S |
is a | snp |
is | mentioned by |
dbSNP | rs121909582 |
dbSNP (classic) | rs121909582 |
ClinGen | rs121909582 |
ebi | rs121909582 |
HLI | rs121909582 |
Exac | rs121909582 |
Gnomad | rs121909582 |
Varsome | rs121909582 |
LitVar | rs121909582 |
Map | rs121909582 |
PheGenI | rs121909582 |
Biobank | rs121909582 |
1000 genomes | rs121909582 |
hgdp | rs121909582 |
ensembl | rs121909582 |
geneview | rs121909582 |
scholar | rs121909582 |
rs121909582 | |
pharmgkb | rs121909582 |
gwascentral | rs121909582 |
openSNP | rs121909582 |
23andMe | rs121909582 |
SNPshot | rs121909582 |
SNPdbe | rs121909582 |
MSV3d | rs121909582 |
GWAS Ctlg | rs121909582 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909582(T;T) |
Alt | rs121909582(T;T) |
Reference | Rs121909582(C;C) |
Significance | Pathogenic |
Disease | Complement 1s deficiency |
Variation | info |
Gene | C1S |
CLNDBN | Complement 1s deficiency |
Reversed | 0 |
HGVS | NC_000012.11:g.7177488C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018597.24, |