rs879255527
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879255527(-;C) |
Make rs879255527(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71137797 |
Gene | MED12 |
is a | snp |
is | mentioned by |
dbSNP | rs879255527 |
dbSNP (classic) | rs879255527 |
ClinGen | rs879255527 |
ebi | rs879255527 |
HLI | rs879255527 |
Exac | rs879255527 |
Gnomad | rs879255527 |
Varsome | rs879255527 |
LitVar | rs879255527 |
Map | rs879255527 |
PheGenI | rs879255527 |
Biobank | rs879255527 |
1000 genomes | rs879255527 |
hgdp | rs879255527 |
ensembl | rs879255527 |
geneview | rs879255527 |
scholar | rs879255527 |
rs879255527 | |
pharmgkb | rs879255527 |
gwascentral | rs879255527 |
openSNP | rs879255527 |
23andMe | rs879255527 |
SNPshot | rs879255527 |
SNPdbe | rs879255527 |
MSV3d | rs879255527 |
GWAS Ctlg | rs879255527 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255527(C;C) |
Alt | rs879255527(C;C) |
Reference | Rs879255527(-;-) |
Significance | Pathogenic |
Disease | FG syndrome |
Variation | info |
Gene | MED12 |
CLNDBN | FG syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.70357647dupC |
CLNSRC | |
CLNACC | RCV000239399.1, |