rs200390886
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200390886(A;A) |
Make rs200390886(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 2670266 |
Gene | PAFAH1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs200390886 |
dbSNP (classic) | rs200390886 |
ClinGen | rs200390886 |
ebi | rs200390886 |
HLI | rs200390886 |
Exac | rs200390886 |
Gnomad | rs200390886 |
Varsome | rs200390886 |
LitVar | rs200390886 |
Map | rs200390886 |
PheGenI | rs200390886 |
Biobank | rs200390886 |
1000 genomes | rs200390886 |
hgdp | rs200390886 |
ensembl | rs200390886 |
geneview | rs200390886 |
scholar | rs200390886 |
rs200390886 | |
pharmgkb | rs200390886 |
gwascentral | rs200390886 |
openSNP | rs200390886 |
23andMe | rs200390886 |
SNPshot | rs200390886 |
SNPdbe | rs200390886 |
MSV3d | rs200390886 |
GWAS Ctlg | rs200390886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200390886(A;A) rs200390886(C;C) |
Alt | rs200390886(A;A) rs200390886(C;C) |
Reference | Rs200390886(G;G) |
Significance | Probable-Pathogenic |
Disease | Lissencephaly 1 |
Variation | info |
Gene | PAFAH1B1 |
CLNDBN | Lissencephaly 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.2573560G>A |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000147041.1, |