rs2230419
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2230419(A;A) |
Make rs2230419(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 225419442 |
Gene | LBR |
is a | snp |
is | mentioned by |
dbSNP | rs2230419 |
dbSNP (classic) | rs2230419 |
ClinGen | rs2230419 |
ebi | rs2230419 |
HLI | rs2230419 |
Exac | rs2230419 |
Gnomad | rs2230419 |
Varsome | rs2230419 |
LitVar | rs2230419 |
Map | rs2230419 |
PheGenI | rs2230419 |
Biobank | rs2230419 |
1000 genomes | rs2230419 |
hgdp | rs2230419 |
ensembl | rs2230419 |
geneview | rs2230419 |
scholar | rs2230419 |
rs2230419 | |
pharmgkb | rs2230419 |
gwascentral | rs2230419 |
openSNP | rs2230419 |
23andMe | rs2230419 |
SNPshot | rs2230419 |
SNPdbe | rs2230419 |
MSV3d | rs2230419 |
GWAS Ctlg | rs2230419 |
GMAF | 0.2231 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2230419(A;A) |
Alt | rs2230419(A;A) |
Reference | Rs2230419(G;G) |
Significance | Non-pathogenic |
Disease | not specified Greenberg dysplasia |
Variation | info |
Gene | LBR |
CLNDBN | not specified Greenberg dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.225607144C>T |
CLNSRC | |
CLNACC | RCV000245894.1, RCV000287243.1, |