rs576928842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs576928842(C;T) |
Make rs576928842(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 15691278 |
Gene | NDE1 |
is a | snp |
is | mentioned by |
dbSNP | rs576928842 |
dbSNP (classic) | rs576928842 |
ClinGen | rs576928842 |
ebi | rs576928842 |
HLI | rs576928842 |
Exac | rs576928842 |
Gnomad | rs576928842 |
Varsome | rs576928842 |
LitVar | rs576928842 |
Map | rs576928842 |
PheGenI | rs576928842 |
Biobank | rs576928842 |
1000 genomes | rs576928842 |
hgdp | rs576928842 |
ensembl | rs576928842 |
geneview | rs576928842 |
scholar | rs576928842 |
rs576928842 | |
pharmgkb | rs576928842 |
gwascentral | rs576928842 |
openSNP | rs576928842 |
23andMe | rs576928842 |
SNPshot | rs576928842 |
SNPdbe | rs576928842 |
MSV3d | rs576928842 |
GWAS Ctlg | rs576928842 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs576928842(G;G) rs576928842(T;T) |
Alt | rs576928842(G;G) rs576928842(T;T) |
Reference | Rs576928842(C;C) |
Significance | Pathogenic |
Disease | Lissencephaly 4 |
Variation | info |
Gene | NDE1 |
CLNDBN | Lissencephaly 4 |
Reversed | 0 |
HGVS | NC_000016.9:g.15785135C>T |
CLNSRC | |
CLNACC | RCV000146496.1, |