Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 MUTATION
CDH1 MUTATION
ENSG00000285837 c.981+41642A>C
rs7166081
COL1A1 c.804+80A>C ( ENST00000225964.10 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
ZNF577 c.-219+1528T>C ( ENST00000301399.12, ENST00000451628.9, ENST00000638348.2, ENST00000639636.2 )
rs311499
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
FBXL7 c.127+58454G>A ( ENST00000504595.2, ENST00000510662.1 )
rs10941679
ENSG00000285837 c.981+41642A>C
rs7166081
COL1A1 c.804+80A>C ( ENST00000225964.10 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
ZNF577 c.-219+1528T>C ( ENST00000301399.12, ENST00000451628.9, ENST00000638348.2, ENST00000639636.2 )
rs311499
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
FBXL7 c.127+58454G>A ( ENST00000504595.2, ENST00000510662.1 )
rs10941679 - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform.
- Pubmed
- 24528085
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0167534511988581
- Year of publication
- 2014
Drugs