rs786205076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs786205076(-;-) |
Make rs786205076(-;GG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 39665468 |
Gene | TCAP |
is a | snp |
is | mentioned by |
dbSNP | rs786205076 |
dbSNP (classic) | rs786205076 |
ClinGen | rs786205076 |
ebi | rs786205076 |
HLI | rs786205076 |
Exac | rs786205076 |
Gnomad | rs786205076 |
Varsome | rs786205076 |
LitVar | rs786205076 |
Map | rs786205076 |
PheGenI | rs786205076 |
Biobank | rs786205076 |
1000 genomes | rs786205076 |
hgdp | rs786205076 |
ensembl | rs786205076 |
geneview | rs786205076 |
scholar | rs786205076 |
rs786205076 | |
pharmgkb | rs786205076 |
gwascentral | rs786205076 |
openSNP | rs786205076 |
23andMe | rs786205076 |
SNPshot | rs786205076 |
SNPdbe | rs786205076 |
MSV3d | rs786205076 |
GWAS Ctlg | rs786205076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205076(-;-) |
Alt | rs786205076(-;-) |
Reference | Rs786205076(GG;GG) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | TCAP |
CLNDBN | Limb-girdle muscular dystrophy, type 2G |
Reversed | 0 |
HGVS | NC_000017.10:g.37821721_37821722delGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005862.3, |