rs768056213
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs768056213(A;A) |
Make rs768056213(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 127654493 |
Gene | LIMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs768056213 |
dbSNP (classic) | rs768056213 |
ClinGen | rs768056213 |
ebi | rs768056213 |
HLI | rs768056213 |
Exac | rs768056213 |
Gnomad | rs768056213 |
Varsome | rs768056213 |
LitVar | rs768056213 |
Map | rs768056213 |
PheGenI | rs768056213 |
Biobank | rs768056213 |
1000 genomes | rs768056213 |
hgdp | rs768056213 |
ensembl | rs768056213 |
geneview | rs768056213 |
scholar | rs768056213 |
rs768056213 | |
pharmgkb | rs768056213 |
gwascentral | rs768056213 |
openSNP | rs768056213 |
23andMe | rs768056213 |
SNPshot | rs768056213 |
SNPdbe | rs768056213 |
MSV3d | rs768056213 |
GWAS Ctlg | rs768056213 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768056213(A;A) |
Alt | rs768056213(A;A) |
Reference | Rs768056213(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.128412067G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208555.2, |