rs794726659
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794726659(A;A) |
Make rs794726659(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 139026800 |
Gene | SIL1 |
is a | snp |
is | mentioned by |
dbSNP | rs794726659 |
dbSNP (classic) | rs794726659 |
ClinGen | rs794726659 |
ebi | rs794726659 |
HLI | rs794726659 |
Exac | rs794726659 |
Gnomad | rs794726659 |
Varsome | rs794726659 |
LitVar | rs794726659 |
Map | rs794726659 |
PheGenI | rs794726659 |
Biobank | rs794726659 |
1000 genomes | rs794726659 |
hgdp | rs794726659 |
ensembl | rs794726659 |
geneview | rs794726659 |
scholar | rs794726659 |
rs794726659 | |
pharmgkb | rs794726659 |
gwascentral | rs794726659 |
openSNP | rs794726659 |
23andMe | rs794726659 |
SNPshot | rs794726659 |
SNPdbe | rs794726659 |
MSV3d | rs794726659 |
GWAS Ctlg | rs794726659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726659(A;A) |
Alt | rs794726659(A;A) |
Reference | Rs794726659(G;G) |
Significance | Pathogenic |
Disease | Marinesco-Sjögren syndrome |
Variation | info |
Gene | SIL1 |
CLNDBN | Marinesco-Sjögren syndrome |
Reversed | 1 |
HGVS | NC_000005.9:g.138362489C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002741.4, |