rs119103233
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119103233(A;A) |
Make rs119103233(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 107929466 |
Gene | SEC63 |
is a | snp |
is | mentioned by |
dbSNP | rs119103233 |
dbSNP (classic) | rs119103233 |
ClinGen | rs119103233 |
ebi | rs119103233 |
HLI | rs119103233 |
Exac | rs119103233 |
Gnomad | rs119103233 |
Varsome | rs119103233 |
LitVar | rs119103233 |
Map | rs119103233 |
PheGenI | rs119103233 |
Biobank | rs119103233 |
1000 genomes | rs119103233 |
hgdp | rs119103233 |
ensembl | rs119103233 |
geneview | rs119103233 |
scholar | rs119103233 |
rs119103233 | |
pharmgkb | rs119103233 |
gwascentral | rs119103233 |
openSNP | rs119103233 |
23andMe | rs119103233 |
SNPshot | rs119103233 |
SNPdbe | rs119103233 |
MSV3d | rs119103233 |
GWAS Ctlg | rs119103233 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103233(A;A) |
Alt | rs119103233(A;A) |
Reference | Rs119103233(G;G) |
Significance | Pathogenic |
Disease | Polycystic liver disease 2 |
Variation | info |
Gene | SEC63 |
CLNDBN | Polycystic liver disease 2 |
Reversed | 1 |
HGVS | NC_000006.11:g.108250670C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002251.3, |