rs794728251
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794728251(C;G) |
Make rs794728251(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48437004 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728251 |
dbSNP (classic) | rs794728251 |
ClinGen | rs794728251 |
ebi | rs794728251 |
HLI | rs794728251 |
Exac | rs794728251 |
Gnomad | rs794728251 |
Varsome | rs794728251 |
LitVar | rs794728251 |
Map | rs794728251 |
PheGenI | rs794728251 |
Biobank | rs794728251 |
1000 genomes | rs794728251 |
hgdp | rs794728251 |
ensembl | rs794728251 |
geneview | rs794728251 |
scholar | rs794728251 |
rs794728251 | |
pharmgkb | rs794728251 |
gwascentral | rs794728251 |
openSNP | rs794728251 |
23andMe | rs794728251 |
SNPshot | rs794728251 |
SNPdbe | rs794728251 |
MSV3d | rs794728251 |
GWAS Ctlg | rs794728251 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728251(G;G) rs794728251(T;T) |
Alt | rs794728251(G;G) rs794728251(T;T) |
Reference | Rs794728251(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48729201G>C |
CLNSRC | |
CLNACC | RCV000181569.2, |