rs748859459
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748859459(C;T) |
Make rs748859459(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 218661851 |
Gene | BCS1L |
is a | snp |
is | mentioned by |
dbSNP | rs748859459 |
dbSNP (classic) | rs748859459 |
ClinGen | rs748859459 |
ebi | rs748859459 |
HLI | rs748859459 |
Exac | rs748859459 |
Gnomad | rs748859459 |
Varsome | rs748859459 |
LitVar | rs748859459 |
Map | rs748859459 |
PheGenI | rs748859459 |
Biobank | rs748859459 |
1000 genomes | rs748859459 |
hgdp | rs748859459 |
ensembl | rs748859459 |
geneview | rs748859459 |
scholar | rs748859459 |
rs748859459 | |
pharmgkb | rs748859459 |
gwascentral | rs748859459 |
openSNP | rs748859459 |
23andMe | rs748859459 |
SNPshot | rs748859459 |
SNPdbe | rs748859459 |
MSV3d | rs748859459 |
GWAS Ctlg | rs748859459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748859459(G;G) rs748859459(T;T) |
Alt | rs748859459(G;G) rs748859459(T;T) |
Reference | Rs748859459(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | BCS1L |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.219526574C>T |
CLNSRC | |
CLNACC | RCV000196315.2, |