rs119463993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs119463993(A;C) |
Make rs119463993(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 105619962 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs119463993 |
dbSNP (classic) | rs119463993 |
ClinGen | rs119463993 |
ebi | rs119463993 |
HLI | rs119463993 |
Exac | rs119463993 |
Gnomad | rs119463993 |
Varsome | rs119463993 |
LitVar | rs119463993 |
Map | rs119463993 |
PheGenI | rs119463993 |
Biobank | rs119463993 |
1000 genomes | rs119463993 |
hgdp | rs119463993 |
ensembl | rs119463993 |
geneview | rs119463993 |
scholar | rs119463993 |
rs119463993 | |
pharmgkb | rs119463993 |
gwascentral | rs119463993 |
openSNP | rs119463993 |
23andMe | rs119463993 |
SNPshot | rs119463993 |
SNPdbe | rs119463993 |
MSV3d | rs119463993 |
GWAS Ctlg | rs119463993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119463993(C;C) |
Alt | rs119463993(C;C) |
Reference | Rs119463993(A;A) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1X |
Variation | info |
Gene | FKTN |
CLNDBN | Dilated cardiomyopathy 1X |
Reversed | 0 |
HGVS | NC_000009.11:g.108382243A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003364.3, |