rs200035428
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200035428(G;T) |
Make rs200035428(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 21858593 |
Gene | MIB1 |
is a | snp |
is | mentioned by |
dbSNP | rs200035428 |
dbSNP (classic) | rs200035428 |
ClinGen | rs200035428 |
ebi | rs200035428 |
HLI | rs200035428 |
Exac | rs200035428 |
Gnomad | rs200035428 |
Varsome | rs200035428 |
LitVar | rs200035428 |
Map | rs200035428 |
PheGenI | rs200035428 |
Biobank | rs200035428 |
1000 genomes | rs200035428 |
hgdp | rs200035428 |
ensembl | rs200035428 |
geneview | rs200035428 |
scholar | rs200035428 |
rs200035428 | |
pharmgkb | rs200035428 |
gwascentral | rs200035428 |
openSNP | rs200035428 |
23andMe | rs200035428 |
SNPshot | rs200035428 |
SNPdbe | rs200035428 |
MSV3d | rs200035428 |
GWAS Ctlg | rs200035428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200035428(T;T) |
Alt | rs200035428(T;T) |
Reference | Rs200035428(G;G) |
Significance | Pathogenic |
Disease | Left ventricular noncompaction 7 |
Variation | info |
Gene | MIB1 |
CLNDBN | Left ventricular noncompaction 7 |
Reversed | 0 |
HGVS | NC_000018.9:g.19438554G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033169.2, |