rs138459502
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138459502(C;C) |
Make rs138459502(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 39023159 |
Gene | SOS1 |
is a | snp |
is | mentioned by |
dbSNP | rs138459502 |
dbSNP (classic) | rs138459502 |
ClinGen | rs138459502 |
ebi | rs138459502 |
HLI | rs138459502 |
Exac | rs138459502 |
Gnomad | rs138459502 |
Varsome | rs138459502 |
LitVar | rs138459502 |
Map | rs138459502 |
PheGenI | rs138459502 |
Biobank | rs138459502 |
1000 genomes | rs138459502 |
hgdp | rs138459502 |
ensembl | rs138459502 |
geneview | rs138459502 |
scholar | rs138459502 |
rs138459502 | |
pharmgkb | rs138459502 |
gwascentral | rs138459502 |
openSNP | rs138459502 |
23andMe | rs138459502 |
SNPshot | rs138459502 |
SNPdbe | rs138459502 |
MSV3d | rs138459502 |
GWAS Ctlg | rs138459502 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138459502(A;A) rs138459502(C;C) |
Alt | rs138459502(A;A) rs138459502(C;C) |
Reference | Rs138459502(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | SOS1 |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.39250300G>A; NC_000002.11:g.39250300G>C |
CLNSRC | |
CLNACC | RCV000421562.1, RCV000159188.2, |