rs34321232
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs34321232(G;G) |
Make rs34321232(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 15720243 |
Gene | MYH11, NDE1 |
is a | snp |
is | mentioned by |
dbSNP | rs34321232 |
dbSNP (classic) | rs34321232 |
ClinGen | rs34321232 |
ebi | rs34321232 |
HLI | rs34321232 |
Exac | rs34321232 |
Gnomad | rs34321232 |
Varsome | rs34321232 |
LitVar | rs34321232 |
Map | rs34321232 |
PheGenI | rs34321232 |
Biobank | rs34321232 |
1000 genomes | rs34321232 |
hgdp | rs34321232 |
ensembl | rs34321232 |
geneview | rs34321232 |
scholar | rs34321232 |
rs34321232 | |
pharmgkb | rs34321232 |
gwascentral | rs34321232 |
openSNP | rs34321232 |
23andMe | rs34321232 |
SNPshot | rs34321232 |
SNPdbe | rs34321232 |
MSV3d | rs34321232 |
GWAS Ctlg | rs34321232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34321232(G;G) |
Alt | rs34321232(G;G) |
Reference | Rs34321232(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial aortopathy not specified |
Variation | info |
Gene | NDE1 MYH11 |
CLNDBN | Familial aortopathy not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.15814100T>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030300.1, RCV000182562.3, |
[PMID 20226094] Myosin individualized: single nucleotide polymorphisms in energy transduction.