rs187018744
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs187018744(A;A) |
Make rs187018744(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 177409589 |
Gene | F12, SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs187018744 |
dbSNP (classic) | rs187018744 |
ClinGen | rs187018744 |
ebi | rs187018744 |
HLI | rs187018744 |
Exac | rs187018744 |
Gnomad | rs187018744 |
Varsome | rs187018744 |
LitVar | rs187018744 |
Map | rs187018744 |
PheGenI | rs187018744 |
Biobank | rs187018744 |
1000 genomes | rs187018744 |
hgdp | rs187018744 |
ensembl | rs187018744 |
geneview | rs187018744 |
scholar | rs187018744 |
rs187018744 | |
pharmgkb | rs187018744 |
gwascentral | rs187018744 |
openSNP | rs187018744 |
23andMe | rs187018744 |
SNPshot | rs187018744 |
SNPdbe | rs187018744 |
MSV3d | rs187018744 |
GWAS Ctlg | rs187018744 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs187018744(A;A) |
Alt | rs187018744(A;A) |
Reference | Rs187018744(G;G) |
Significance | Probable-non-pathogenic |
Disease | Reduced factor XII activity Hereditary Angioedema |
Variation | info |
Gene | F12 |
CLNDBN | Reduced factor XII activity Hereditary Angioedema |
Reversed | 0 |
HGVS | NC_000005.9:g.176836590G>A |
CLNSRC | |
CLNACC | RCV000286884.1, RCV000323254.1, |