rs41272699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs41272699(C;T) |
Make rs41272699(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 219420154 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs41272699 |
dbSNP (classic) | rs41272699 |
ClinGen | rs41272699 |
ebi | rs41272699 |
HLI | rs41272699 |
Exac | rs41272699 |
Gnomad | rs41272699 |
Varsome | rs41272699 |
LitVar | rs41272699 |
Map | rs41272699 |
PheGenI | rs41272699 |
Biobank | rs41272699 |
1000 genomes | rs41272699 |
hgdp | rs41272699 |
ensembl | rs41272699 |
geneview | rs41272699 |
scholar | rs41272699 |
rs41272699 | |
pharmgkb | rs41272699 |
gwascentral | rs41272699 |
openSNP | rs41272699 |
23andMe | rs41272699 |
SNPshot | rs41272699 |
SNPdbe | rs41272699 |
MSV3d | rs41272699 |
GWAS Ctlg | rs41272699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41272699(T;T) |
Alt | rs41272699(T;T) |
Reference | Rs41272699(C;C) |
Significance | Pathogenic |
Disease | not specified not provided Congenital diaphragmatic hernia Muscular dystrophy Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy Dilated Cardiomyopathy Scapuloperoneal weakness |
Variation | info |
Gene | DES |
CLNDBN | not specified not provided Congenital diaphragmatic hernia Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Scapuloperoneal weakness |
Reversed | 0 |
HGVS | NC_000002.11:g.220284876C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000037245.8, RCV000056805.1, RCV000203295.1, RCV000233557.2, RCV000239721.1, RCV000250294.1, RCV000263666.1, RCV000313133.1, RCV000318781.1, RCV000367823.1, |