rs727502799
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs727502799(-;-) |
Make rs727502799(-;AA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 69119255 |
Gene | LMOD3 |
is a | snp |
is | mentioned by |
dbSNP | rs727502799 |
dbSNP (classic) | rs727502799 |
ClinGen | rs727502799 |
ebi | rs727502799 |
HLI | rs727502799 |
Exac | rs727502799 |
Gnomad | rs727502799 |
Varsome | rs727502799 |
LitVar | rs727502799 |
Map | rs727502799 |
PheGenI | rs727502799 |
Biobank | rs727502799 |
1000 genomes | rs727502799 |
hgdp | rs727502799 |
ensembl | rs727502799 |
geneview | rs727502799 |
scholar | rs727502799 |
rs727502799 | |
pharmgkb | rs727502799 |
gwascentral | rs727502799 |
openSNP | rs727502799 |
23andMe | rs727502799 |
SNPshot | rs727502799 |
SNPdbe | rs727502799 |
MSV3d | rs727502799 |
GWAS Ctlg | rs727502799 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502799(-;-) |
Alt | rs727502799(-;-) |
Reference | Rs727502799(AA;AA) |
Significance | Pathogenic |
Disease | Nemaline myopathy 10 |
Variation | info |
Gene | LMOD3 |
CLNDBN | Nemaline myopathy 10 |
Reversed | 1 |
HGVS | NC_000003.11:g.69168406_69168407delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149598.4, |