Variant "TGFB1:c.-1347T>C"
Search results: 5 records
Variant information
Gene:
Variant:
TGFB1:c.-1347T>C
Genomic location:
chr19:41860296(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000660.6:c.-1347T>C |
protein_coding | NM_030578.3:c.*309T>C |
TGFB1-B9D2:n.41860296A>G |
Alias:
TGFB1:rs1800469, TGFB1:c.-509T>C, TGFB1:c.509C>T
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
5
Disorder:
1
Reference:
5
Effect type:
Expressivity(4)
,Pleiotropy(1)
Modifier effect:
Risk factor(2)
,Altered lung function(1)
,Altered phenotype(1)
,Altered severity(1)
Details: