rs200180113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200180113(A;A) |
Make rs200180113(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 225411411 |
Gene | LBR |
is a | snp |
is | mentioned by |
dbSNP | rs200180113 |
dbSNP (classic) | rs200180113 |
ClinGen | rs200180113 |
ebi | rs200180113 |
HLI | rs200180113 |
Exac | rs200180113 |
Gnomad | rs200180113 |
Varsome | rs200180113 |
LitVar | rs200180113 |
Map | rs200180113 |
PheGenI | rs200180113 |
Biobank | rs200180113 |
1000 genomes | rs200180113 |
hgdp | rs200180113 |
ensembl | rs200180113 |
geneview | rs200180113 |
scholar | rs200180113 |
rs200180113 | |
pharmgkb | rs200180113 |
gwascentral | rs200180113 |
openSNP | rs200180113 |
23andMe | rs200180113 |
SNPshot | rs200180113 |
SNPdbe | rs200180113 |
MSV3d | rs200180113 |
GWAS Ctlg | rs200180113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200180113(A;A) |
Alt | rs200180113(A;A) |
Reference | Rs200180113(G;G) |
Significance | Pathogenic |
Disease | Reynolds syndrome |
Variation | info |
Gene | LBR |
CLNDBN | Reynolds syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.225599113G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010141.6, |