rs1060500739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAAA;GGAAA) | 0 | common in clinvar |
Make rs1060500739(-;-) |
Make rs1060500739(-;AAGGA) |
Make rs1060500739(AAGGA;AAGGA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 51048699 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500739 |
dbSNP (classic) | rs1060500739 |
ClinGen | rs1060500739 |
ebi | rs1060500739 |
HLI | rs1060500739 |
Exac | rs1060500739 |
Gnomad | rs1060500739 |
Varsome | rs1060500739 |
LitVar | rs1060500739 |
Map | rs1060500739 |
PheGenI | rs1060500739 |
Biobank | rs1060500739 |
1000 genomes | rs1060500739 |
hgdp | rs1060500739 |
ensembl | rs1060500739 |
geneview | rs1060500739 |
scholar | rs1060500739 |
rs1060500739 | |
pharmgkb | rs1060500739 |
gwascentral | rs1060500739 |
openSNP | rs1060500739 |
23andMe | rs1060500739 |
SNPshot | rs1060500739 |
SNPdbe | rs1060500739 |
MSV3d | rs1060500739 |
GWAS Ctlg | rs1060500739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500739(-;-) |
Alt | rs1060500739(-;-) |
Reference | Rs1060500739(GGAAA;GGAAA) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48575069_48575073delAAGGA |
CLNSRC | |
CLNACC | RCV000467655.1, |