rs139834687
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139834687(C;T) |
Make rs139834687(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 122947451 |
Gene | SPATA5 |
is a | snp |
is | mentioned by |
dbSNP | rs139834687 |
dbSNP (classic) | rs139834687 |
ClinGen | rs139834687 |
ebi | rs139834687 |
HLI | rs139834687 |
Exac | rs139834687 |
Gnomad | rs139834687 |
Varsome | rs139834687 |
LitVar | rs139834687 |
Map | rs139834687 |
PheGenI | rs139834687 |
Biobank | rs139834687 |
1000 genomes | rs139834687 |
hgdp | rs139834687 |
ensembl | rs139834687 |
geneview | rs139834687 |
scholar | rs139834687 |
rs139834687 | |
pharmgkb | rs139834687 |
gwascentral | rs139834687 |
openSNP | rs139834687 |
23andMe | rs139834687 |
SNPshot | rs139834687 |
SNPdbe | rs139834687 |
MSV3d | rs139834687 |
GWAS Ctlg | rs139834687 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139834687(A;A) rs139834687(T;T) |
Alt | rs139834687(A;A) rs139834687(T;T) |
Reference | Rs139834687(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SPATA5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.123868606C>A |
CLNSRC | |
CLNACC | RCV000190121.1, |