rs104894655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894655(C;T) |
Make rs104894655(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 39665762 |
Gene | TCAP |
is a | snp |
is | mentioned by |
dbSNP | rs104894655 |
dbSNP (classic) | rs104894655 |
ClinGen | rs104894655 |
ebi | rs104894655 |
HLI | rs104894655 |
Exac | rs104894655 |
Gnomad | rs104894655 |
Varsome | rs104894655 |
LitVar | rs104894655 |
Map | rs104894655 |
PheGenI | rs104894655 |
Biobank | rs104894655 |
1000 genomes | rs104894655 |
hgdp | rs104894655 |
ensembl | rs104894655 |
geneview | rs104894655 |
scholar | rs104894655 |
rs104894655 | |
pharmgkb | rs104894655 |
gwascentral | rs104894655 |
openSNP | rs104894655 |
23andMe | rs104894655 |
SNPshot | rs104894655 |
SNPdbe | rs104894655 |
MSV3d | rs104894655 |
GWAS Ctlg | rs104894655 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894655(T;T) |
Alt | rs104894655(T;T) |
Reference | Rs104894655(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Dilated cardiomyopathy 1N Primary dilated cardiomyopathy |
Variation | info |
Gene | TCAP |
CLNDBN | Limb-girdle muscular dystrophy, type 2G Dilated cardiomyopathy 1N Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000017.10:g.37822015C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005861.3, RCV000037790.3, RCV000211741.1, |