rs387906385
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906385(-;GT) |
Make rs387906385(GT;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94042877 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs387906385 |
dbSNP (classic) | rs387906385 |
ClinGen | rs387906385 |
ebi | rs387906385 |
HLI | rs387906385 |
Exac | rs387906385 |
Gnomad | rs387906385 |
Varsome | rs387906385 |
LitVar | rs387906385 |
Map | rs387906385 |
PheGenI | rs387906385 |
Biobank | rs387906385 |
1000 genomes | rs387906385 |
hgdp | rs387906385 |
ensembl | rs387906385 |
geneview | rs387906385 |
scholar | rs387906385 |
rs387906385 | |
pharmgkb | rs387906385 |
gwascentral | rs387906385 |
openSNP | rs387906385 |
23andMe | rs387906385 |
SNPshot | rs387906385 |
SNPdbe | rs387906385 |
MSV3d | rs387906385 |
GWAS Ctlg | rs387906385 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906385(GT;GT) |
Alt | rs387906385(GT;GT) |
Reference | Rs387906385(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94508434_94508435dupAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000413475.1, |