rs397515336
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGT;GTGT) | 0 | common in clinvar |
Make rs397515336(-;-) |
Make rs397515336(-;GTGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 243426519 |
Gene | SDCCAG8 |
is a | snp |
is | mentioned by |
dbSNP | rs397515336 |
dbSNP (classic) | rs397515336 |
ClinGen | rs397515336 |
ebi | rs397515336 |
HLI | rs397515336 |
Exac | rs397515336 |
Gnomad | rs397515336 |
Varsome | rs397515336 |
LitVar | rs397515336 |
Map | rs397515336 |
PheGenI | rs397515336 |
Biobank | rs397515336 |
1000 genomes | rs397515336 |
hgdp | rs397515336 |
ensembl | rs397515336 |
geneview | rs397515336 |
scholar | rs397515336 |
rs397515336 | |
pharmgkb | rs397515336 |
gwascentral | rs397515336 |
openSNP | rs397515336 |
23andMe | rs397515336 |
SNPshot | rs397515336 |
SNPdbe | rs397515336 |
MSV3d | rs397515336 |
GWAS Ctlg | rs397515336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515336(-;-) |
Alt | rs397515336(-;-) |
Reference | Rs397515336(GTGT;GTGT) |
Significance | Pathogenic |
Disease | Senior-Loken syndrome 7 |
Variation | info |
Gene | SDCCAG8 |
CLNDBN | Senior-Loken syndrome 7 |
Reversed | 0 |
HGVS | NC_000001.10:g.243589821_243589824delGTGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000076.5, |