rs754385302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs754385302(C;C) |
Make rs754385302(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 127654507 |
Gene | LIMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs754385302 |
dbSNP (classic) | rs754385302 |
ClinGen | rs754385302 |
ebi | rs754385302 |
HLI | rs754385302 |
Exac | rs754385302 |
Gnomad | rs754385302 |
Varsome | rs754385302 |
LitVar | rs754385302 |
Map | rs754385302 |
PheGenI | rs754385302 |
Biobank | rs754385302 |
1000 genomes | rs754385302 |
hgdp | rs754385302 |
ensembl | rs754385302 |
geneview | rs754385302 |
scholar | rs754385302 |
rs754385302 | |
pharmgkb | rs754385302 |
gwascentral | rs754385302 |
openSNP | rs754385302 |
23andMe | rs754385302 |
SNPshot | rs754385302 |
SNPdbe | rs754385302 |
MSV3d | rs754385302 |
GWAS Ctlg | rs754385302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754385302(C;C) |
Alt | rs754385302(C;C) |
Reference | Rs754385302(G;G) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | LIMS2 |
CLNDBN | Muscular dystrophy, limb-girdle, type 2W |
Reversed | 0 |
HGVS | NC_000002.11:g.128412081G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208555.2, |