rs113994200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113994200(-;-) |
Make rs113994200(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 2680211 |
Gene | PAFAH1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs113994200 |
dbSNP (classic) | rs113994200 |
ClinGen | rs113994200 |
ebi | rs113994200 |
HLI | rs113994200 |
Exac | rs113994200 |
Gnomad | rs113994200 |
Varsome | rs113994200 |
LitVar | rs113994200 |
Map | rs113994200 |
PheGenI | rs113994200 |
Biobank | rs113994200 |
1000 genomes | rs113994200 |
hgdp | rs113994200 |
ensembl | rs113994200 |
geneview | rs113994200 |
scholar | rs113994200 |
rs113994200 | |
pharmgkb | rs113994200 |
gwascentral | rs113994200 |
openSNP | rs113994200 |
23andMe | rs113994200 |
SNPshot | rs113994200 |
SNPdbe | rs113994200 |
MSV3d | rs113994200 |
GWAS Ctlg | rs113994200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994200(-;-) |
Alt | rs113994200(-;-) |
Reference | Rs113994200(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 1 not provided |
Variation | info |
Gene | PAFAH1B1 |
CLNDBN | Lissencephaly 1 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.2583505delG |
CLNSRC | ClinVar GeneReviews University of Chicago |
CLNACC | RCV000020298.2, RCV000254776.1, |