rs1060501052
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060501052(A;G) |
Make rs1060501052(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48495590 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501052 |
dbSNP (classic) | rs1060501052 |
ClinGen | rs1060501052 |
ebi | rs1060501052 |
HLI | rs1060501052 |
Exac | rs1060501052 |
Gnomad | rs1060501052 |
Varsome | rs1060501052 |
LitVar | rs1060501052 |
Map | rs1060501052 |
PheGenI | rs1060501052 |
Biobank | rs1060501052 |
1000 genomes | rs1060501052 |
hgdp | rs1060501052 |
ensembl | rs1060501052 |
geneview | rs1060501052 |
scholar | rs1060501052 |
rs1060501052 | |
pharmgkb | rs1060501052 |
gwascentral | rs1060501052 |
openSNP | rs1060501052 |
23andMe | rs1060501052 |
SNPshot | rs1060501052 |
SNPdbe | rs1060501052 |
MSV3d | rs1060501052 |
GWAS Ctlg | rs1060501052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501052(G;G) |
Alt | rs1060501052(G;G) |
Reference | Rs1060501052(A;A) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48787787T>C |
CLNSRC | |
CLNACC | RCV000457150.1, |