rs749838192
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs749838192(-;TGAGTCACTGCTGCATGCT) |
Make rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50524395 |
Gene | NCAPH2, SCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs749838192 |
dbSNP (classic) | rs749838192 |
ClinGen | rs749838192 |
ebi | rs749838192 |
HLI | rs749838192 |
Exac | rs749838192 |
Gnomad | rs749838192 |
Varsome | rs749838192 |
LitVar | rs749838192 |
Map | rs749838192 |
PheGenI | rs749838192 |
Biobank | rs749838192 |
1000 genomes | rs749838192 |
hgdp | rs749838192 |
ensembl | rs749838192 |
geneview | rs749838192 |
scholar | rs749838192 |
rs749838192 | |
pharmgkb | rs749838192 |
gwascentral | rs749838192 |
openSNP | rs749838192 |
23andMe | rs749838192 |
SNPshot | rs749838192 |
SNPdbe | rs749838192 |
MSV3d | rs749838192 |
GWAS Ctlg | rs749838192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
Alt | rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
Reference | Rs749838192(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | NCAPH2 SCO2 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT |
CLNSRC | |
CLNACC | RCV000208004.1, |