rs214088
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs214088(C;C) |
Make rs214088(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 17276578 |
Gene | NUCB2 |
is a | snp |
is | mentioned by |
dbSNP | rs214088 |
dbSNP (classic) | rs214088 |
ClinGen | rs214088 |
ebi | rs214088 |
HLI | rs214088 |
Exac | rs214088 |
Gnomad | rs214088 |
Varsome | rs214088 |
LitVar | rs214088 |
Map | rs214088 |
PheGenI | rs214088 |
Biobank | rs214088 |
1000 genomes | rs214088 |
hgdp | rs214088 |
ensembl | rs214088 |
geneview | rs214088 |
scholar | rs214088 |
rs214088 | |
pharmgkb | rs214088 |
gwascentral | rs214088 |
openSNP | rs214088 |
23andMe | rs214088 |
SNPshot | rs214088 |
SNPdbe | rs214088 |
MSV3d | rs214088 |
GWAS Ctlg | rs214088 |
Max Magnitude | 0 |
aka c.-406C>G
ClinVar | |
---|---|
Risk | rs214088(A;A) rs214088(C;C) |
Alt | rs214088(A;A) rs214088(C;C) |
Reference | Rs214088(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | NUCB2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.17298125C>G |
CLNSRC | |
CLNACC | RCV000114966.1, |