rs387906585
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCATCGAGCATGGTATC;CCATCGAGCATGGTATC) | 0 | common in clinvar |
Make rs387906585(-;-) |
Make rs387906585(-;CCCATCGAGCATGGTAT) |
Make rs387906585(CCCATCGAGCATGGTAT;CCCATCGAGCATGGTAT) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 34793469 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs387906585 |
dbSNP (classic) | rs387906585 |
ClinGen | rs387906585 |
ebi | rs387906585 |
HLI | rs387906585 |
Exac | rs387906585 |
Gnomad | rs387906585 |
Varsome | rs387906585 |
LitVar | rs387906585 |
Map | rs387906585 |
PheGenI | rs387906585 |
Biobank | rs387906585 |
1000 genomes | rs387906585 |
hgdp | rs387906585 |
ensembl | rs387906585 |
geneview | rs387906585 |
scholar | rs387906585 |
rs387906585 | |
pharmgkb | rs387906585 |
gwascentral | rs387906585 |
openSNP | rs387906585 |
23andMe | rs387906585 |
SNPshot | rs387906585 |
SNPdbe | rs387906585 |
MSV3d | rs387906585 |
GWAS Ctlg | rs387906585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906585(-;-) |
Alt | rs387906585(-;-) |
Reference | Rs387906585(CCATCGAGCATGGTATC;CCATCGAGCATGGTATC) |
Significance | Pathogenic |
Disease | Atrial septal defect 5 |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | Atrial septal defect 5 |
Reversed | 1 |
HGVS | NC_000015.9:g.35085670_35085686del17 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019993.28, |