rs387907344
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907344(G;T) |
Make rs387907344(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107961205 |
Gene | LAMB1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907344 |
dbSNP (classic) | rs387907344 |
ClinGen | rs387907344 |
ebi | rs387907344 |
HLI | rs387907344 |
Exac | rs387907344 |
Gnomad | rs387907344 |
Varsome | rs387907344 |
LitVar | rs387907344 |
Map | rs387907344 |
PheGenI | rs387907344 |
Biobank | rs387907344 |
1000 genomes | rs387907344 |
hgdp | rs387907344 |
ensembl | rs387907344 |
geneview | rs387907344 |
scholar | rs387907344 |
rs387907344 | |
pharmgkb | rs387907344 |
gwascentral | rs387907344 |
openSNP | rs387907344 |
23andMe | rs387907344 |
SNPshot | rs387907344 |
SNPdbe | rs387907344 |
MSV3d | rs387907344 |
GWAS Ctlg | rs387907344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907344(T;T) |
Alt | rs387907344(T;T) |
Reference | Rs387907344(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 5 |
Variation | info |
Gene | LAMB1 |
CLNDBN | Lissencephaly 5 |
Reversed | 1 |
HGVS | NC_000007.13:g.107601650C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034857.26, |