rs199939108
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199939108(C;T) |
Make rs199939108(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 18543155 |
Gene | SEC23B |
is a | snp |
is | mentioned by |
dbSNP | rs199939108 |
dbSNP (classic) | rs199939108 |
ClinGen | rs199939108 |
ebi | rs199939108 |
HLI | rs199939108 |
Exac | rs199939108 |
Gnomad | rs199939108 |
Varsome | rs199939108 |
LitVar | rs199939108 |
Map | rs199939108 |
PheGenI | rs199939108 |
Biobank | rs199939108 |
1000 genomes | rs199939108 |
hgdp | rs199939108 |
ensembl | rs199939108 |
geneview | rs199939108 |
scholar | rs199939108 |
rs199939108 | |
pharmgkb | rs199939108 |
gwascentral | rs199939108 |
openSNP | rs199939108 |
23andMe | rs199939108 |
SNPshot | rs199939108 |
SNPdbe | rs199939108 |
MSV3d | rs199939108 |
GWAS Ctlg | rs199939108 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199939108(T;T) |
Alt | rs199939108(T;T) |
Reference | Rs199939108(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SEC23B |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.18523799C>T |
CLNSRC | HGMD |
CLNACC | RCV000153929.3, |