rs121908096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908096(C;T) |
Make rs121908096(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 218814186 |
Gene | CYP27A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908096 |
dbSNP (classic) | rs121908096 |
ClinGen | rs121908096 |
ebi | rs121908096 |
HLI | rs121908096 |
Exac | rs121908096 |
Gnomad | rs121908096 |
Varsome | rs121908096 |
LitVar | rs121908096 |
Map | rs121908096 |
PheGenI | rs121908096 |
Biobank | rs121908096 |
1000 genomes | rs121908096 |
hgdp | rs121908096 |
ensembl | rs121908096 |
geneview | rs121908096 |
scholar | rs121908096 |
rs121908096 | |
pharmgkb | rs121908096 |
gwascentral | rs121908096 |
openSNP | rs121908096 |
23andMe | rs121908096 |
SNPshot | rs121908096 |
SNPdbe | rs121908096 |
MSV3d | rs121908096 |
GWAS Ctlg | rs121908096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908096(A;A) rs121908096(T;T) |
Alt | rs121908096(A;A) rs121908096(T;T) |
Reference | Rs121908096(C;C) |
Significance | Pathogenic |
Disease | Cholestanol storage disease not provided |
Variation | info |
Gene | CYP27A1 |
CLNDBN | Cholestanol storage disease not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.219678909C>A; NC_000002.11:g.219678909C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004483.2, RCV000004477.3, RCV000275162.1, |