rs148231754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148231754(C;T) |
Make rs148231754(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178557248 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs148231754 |
dbSNP (classic) | rs148231754 |
ClinGen | rs148231754 |
ebi | rs148231754 |
HLI | rs148231754 |
Exac | rs148231754 |
Gnomad | rs148231754 |
Varsome | rs148231754 |
LitVar | rs148231754 |
Map | rs148231754 |
PheGenI | rs148231754 |
Biobank | rs148231754 |
1000 genomes | rs148231754 |
hgdp | rs148231754 |
ensembl | rs148231754 |
geneview | rs148231754 |
scholar | rs148231754 |
rs148231754 | |
pharmgkb | rs148231754 |
gwascentral | rs148231754 |
openSNP | rs148231754 |
23andMe | rs148231754 |
SNPshot | rs148231754 |
SNPdbe | rs148231754 |
MSV3d | rs148231754 |
GWAS Ctlg | rs148231754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148231754(T;T) |
Alt | rs148231754(T;T) |
Reference | Rs148231754(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179421975C>T |
CLNSRC | |
CLNACC | RCV000184394.2, RCV000231587.1, |