rs199689137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199689137(A;A) |
Make rs199689137(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 43822924 |
Gene | ABCG5, DYNC2LI1 |
is a | snp |
is | mentioned by |
dbSNP | rs199689137 |
dbSNP (classic) | rs199689137 |
ClinGen | rs199689137 |
ebi | rs199689137 |
HLI | rs199689137 |
Exac | rs199689137 |
Gnomad | rs199689137 |
Varsome | rs199689137 |
LitVar | rs199689137 |
Map | rs199689137 |
PheGenI | rs199689137 |
Biobank | rs199689137 |
1000 genomes | rs199689137 |
hgdp | rs199689137 |
ensembl | rs199689137 |
geneview | rs199689137 |
scholar | rs199689137 |
rs199689137 | |
pharmgkb | rs199689137 |
gwascentral | rs199689137 |
openSNP | rs199689137 |
23andMe | rs199689137 |
SNPshot | rs199689137 |
SNPdbe | rs199689137 |
MSV3d | rs199689137 |
GWAS Ctlg | rs199689137 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199689137(A;A) rs199689137(C;C) rs199689137(T;T) |
Alt | rs199689137(A;A) rs199689137(C;C) rs199689137(T;T) |
Reference | Rs199689137(G;G) |
Significance | Other |
Disease | Sitosterolemia |
Variation | info |
Gene | DYNC2LI1 ABCG5 |
CLNDBN | Sitosterolemia |
Reversed | 0 |
HGVS | NC_000002.11:g.44050063G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023442.4, |