rs869312978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312978(-;-) |
Make rs869312978(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 107929419 |
Gene | SEC63 |
is a | snp |
is | mentioned by |
dbSNP | rs869312978 |
dbSNP (classic) | rs869312978 |
ClinGen | rs869312978 |
ebi | rs869312978 |
HLI | rs869312978 |
Exac | rs869312978 |
Gnomad | rs869312978 |
Varsome | rs869312978 |
LitVar | rs869312978 |
Map | rs869312978 |
PheGenI | rs869312978 |
Biobank | rs869312978 |
1000 genomes | rs869312978 |
hgdp | rs869312978 |
ensembl | rs869312978 |
geneview | rs869312978 |
scholar | rs869312978 |
rs869312978 | |
pharmgkb | rs869312978 |
gwascentral | rs869312978 |
openSNP | rs869312978 |
23andMe | rs869312978 |
SNPshot | rs869312978 |
SNPdbe | rs869312978 |
MSV3d | rs869312978 |
GWAS Ctlg | rs869312978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312978(-;-) |
Alt | rs869312978(-;-) |
Reference | Rs869312978(G;G) |
Significance | Pathogenic |
Disease | Congenital cystic disease of liver |
Variation | info |
Gene | SEC63 |
CLNDBN | Congenital cystic disease of liver |
Reversed | 1 |
HGVS | NC_000006.11:g.108250623delC |
CLNSRC | |
CLNACC | RCV000210741.1, |