rs1060501017
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060501017(G;G) |
Make rs1060501017(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48505136 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501017 |
dbSNP (classic) | rs1060501017 |
ClinGen | rs1060501017 |
ebi | rs1060501017 |
HLI | rs1060501017 |
Exac | rs1060501017 |
Gnomad | rs1060501017 |
Varsome | rs1060501017 |
LitVar | rs1060501017 |
Map | rs1060501017 |
PheGenI | rs1060501017 |
Biobank | rs1060501017 |
1000 genomes | rs1060501017 |
hgdp | rs1060501017 |
ensembl | rs1060501017 |
geneview | rs1060501017 |
scholar | rs1060501017 |
rs1060501017 | |
pharmgkb | rs1060501017 |
gwascentral | rs1060501017 |
openSNP | rs1060501017 |
23andMe | rs1060501017 |
SNPshot | rs1060501017 |
SNPdbe | rs1060501017 |
MSV3d | rs1060501017 |
GWAS Ctlg | rs1060501017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501017(G;G) |
Alt | rs1060501017(G;G) |
Reference | Rs1060501017(T;T) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48797333A>C |
CLNSRC | |
CLNACC | RCV000474956.1, |