rs397515554
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515554(A;A) |
Make rs397515554(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71127359 |
Gene | MED12 |
is a | snp |
is | mentioned by |
dbSNP | rs397515554 |
dbSNP (classic) | rs397515554 |
ClinGen | rs397515554 |
ebi | rs397515554 |
HLI | rs397515554 |
Exac | rs397515554 |
Gnomad | rs397515554 |
Varsome | rs397515554 |
LitVar | rs397515554 |
Map | rs397515554 |
PheGenI | rs397515554 |
Biobank | rs397515554 |
1000 genomes | rs397515554 |
hgdp | rs397515554 |
ensembl | rs397515554 |
geneview | rs397515554 |
scholar | rs397515554 |
rs397515554 | |
pharmgkb | rs397515554 |
gwascentral | rs397515554 |
openSNP | rs397515554 |
23andMe | rs397515554 |
SNPshot | rs397515554 |
SNPdbe | rs397515554 |
MSV3d | rs397515554 |
GWAS Ctlg | rs397515554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515554(A;A) |
Alt | rs397515554(A;A) |
Reference | Rs397515554(G;G) |
Significance | Pathogenic |
Disease | FG syndrome |
Variation | info |
Gene | MED12 |
CLNDBN | FG syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.70347209G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055909.1, |