rs138340807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138340807(C;T) |
Make rs138340807(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 26581971 |
Gene | DPYSL2 |
is a | snp |
is | mentioned by |
dbSNP | rs138340807 |
dbSNP (classic) | rs138340807 |
ClinGen | rs138340807 |
ebi | rs138340807 |
HLI | rs138340807 |
Exac | rs138340807 |
Gnomad | rs138340807 |
Varsome | rs138340807 |
LitVar | rs138340807 |
Map | rs138340807 |
PheGenI | rs138340807 |
Biobank | rs138340807 |
1000 genomes | rs138340807 |
hgdp | rs138340807 |
ensembl | rs138340807 |
geneview | rs138340807 |
scholar | rs138340807 |
rs138340807 | |
pharmgkb | rs138340807 |
gwascentral | rs138340807 |
openSNP | rs138340807 |
23andMe | rs138340807 |
SNPshot | rs138340807 |
SNPdbe | rs138340807 |
MSV3d | rs138340807 |
GWAS Ctlg | rs138340807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138340807(A;A) rs138340807(T;T) |
Alt | rs138340807(A;A) rs138340807(T;T) |
Reference | Rs138340807(C;C) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | DPYSL2 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000008.10:g.26439487C>A |
CLNSRC | |
CLNACC | RCV000210724.1, |