rs387906644
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906644(A;G) |
Make rs387906644(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 49132135 |
Gene | LAMB2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906644 |
dbSNP (classic) | rs387906644 |
ClinGen | rs387906644 |
ebi | rs387906644 |
HLI | rs387906644 |
Exac | rs387906644 |
Gnomad | rs387906644 |
Varsome | rs387906644 |
LitVar | rs387906644 |
Map | rs387906644 |
PheGenI | rs387906644 |
Biobank | rs387906644 |
1000 genomes | rs387906644 |
hgdp | rs387906644 |
ensembl | rs387906644 |
geneview | rs387906644 |
scholar | rs387906644 |
rs387906644 | |
pharmgkb | rs387906644 |
gwascentral | rs387906644 |
openSNP | rs387906644 |
23andMe | rs387906644 |
SNPshot | rs387906644 |
SNPdbe | rs387906644 |
MSV3d | rs387906644 |
GWAS Ctlg | rs387906644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906644(G;G) |
Alt | rs387906644(G;G) |
Reference | Rs387906644(A;A) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | LAMB2 |
CLNDBN | Nephrotic syndrome, type 5, with or without ocular abnormalities |
Reversed | 1 |
HGVS | NC_000003.11:g.49169568T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022640.25, |