rs587777669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777669(C;T) |
Make rs587777669(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 82426523 |
Gene | HNRNPDL |
is a | snp |
is | mentioned by |
dbSNP | rs587777669 |
dbSNP (classic) | rs587777669 |
ClinGen | rs587777669 |
ebi | rs587777669 |
HLI | rs587777669 |
Exac | rs587777669 |
Gnomad | rs587777669 |
Varsome | rs587777669 |
LitVar | rs587777669 |
Map | rs587777669 |
PheGenI | rs587777669 |
Biobank | rs587777669 |
1000 genomes | rs587777669 |
hgdp | rs587777669 |
ensembl | rs587777669 |
geneview | rs587777669 |
scholar | rs587777669 |
rs587777669 | |
pharmgkb | rs587777669 |
gwascentral | rs587777669 |
openSNP | rs587777669 |
23andMe | rs587777669 |
SNPshot | rs587777669 |
SNPdbe | rs587777669 |
MSV3d | rs587777669 |
GWAS Ctlg | rs587777669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777669(G;G) rs587777669(T;T) |
Alt | rs587777669(G;G) rs587777669(T;T) |
Reference | Rs587777669(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | HNRNPDL |
CLNDBN | Limb-girdle muscular dystrophy, type 1G |
Reversed | 0 |
HGVS | NC_000004.11:g.83347676C>G; NC_000004.11:g.83347676C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000133586.3, RCV000133585.3, |