rs774441811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774441811(A;A) |
Make rs774441811(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 139026986 |
Gene | SIL1 |
is a | snp |
is | mentioned by |
dbSNP | rs774441811 |
dbSNP (classic) | rs774441811 |
ClinGen | rs774441811 |
ebi | rs774441811 |
HLI | rs774441811 |
Exac | rs774441811 |
Gnomad | rs774441811 |
Varsome | rs774441811 |
LitVar | rs774441811 |
Map | rs774441811 |
PheGenI | rs774441811 |
Biobank | rs774441811 |
1000 genomes | rs774441811 |
hgdp | rs774441811 |
ensembl | rs774441811 |
geneview | rs774441811 |
scholar | rs774441811 |
rs774441811 | |
pharmgkb | rs774441811 |
gwascentral | rs774441811 |
openSNP | rs774441811 |
23andMe | rs774441811 |
SNPshot | rs774441811 |
SNPdbe | rs774441811 |
MSV3d | rs774441811 |
GWAS Ctlg | rs774441811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774441811(A;A) |
Alt | rs774441811(A;A) |
Reference | Rs774441811(G;G) |
Significance | Pathogenic |
Disease | Marinesco-Sjögren syndrome |
Variation | info |
Gene | SIL1 |
CLNDBN | Marinesco-Sjögren syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.138362675G>A |
CLNSRC | |
CLNACC | RCV000179525.1, |