rs1060501054
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060501054(A;A) |
Make rs1060501054(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48432910 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501054 |
dbSNP (classic) | rs1060501054 |
ClinGen | rs1060501054 |
ebi | rs1060501054 |
HLI | rs1060501054 |
Exac | rs1060501054 |
Gnomad | rs1060501054 |
Varsome | rs1060501054 |
LitVar | rs1060501054 |
Map | rs1060501054 |
PheGenI | rs1060501054 |
Biobank | rs1060501054 |
1000 genomes | rs1060501054 |
hgdp | rs1060501054 |
ensembl | rs1060501054 |
geneview | rs1060501054 |
scholar | rs1060501054 |
rs1060501054 | |
pharmgkb | rs1060501054 |
gwascentral | rs1060501054 |
openSNP | rs1060501054 |
23andMe | rs1060501054 |
SNPshot | rs1060501054 |
SNPdbe | rs1060501054 |
MSV3d | rs1060501054 |
GWAS Ctlg | rs1060501054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501054(A;A) |
Alt | rs1060501054(A;A) |
Reference | Rs1060501054(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48725107C>T |
CLNSRC | |
CLNACC | RCV000470389.1, |