Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
rs4657139
rs16847548
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000416357.6, ENST00000399284.1, ENST00000399286.3, ENST00000337385.7, ENST00000399289.7, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
rs4657139
rs16847548
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- DisGeNET
- Description
- Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-D85N) did not reveal a correlation with symptoms or QTc intervals.
- Pubmed
- 22708720
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121900093104562
- Year of publication
- 2012
Drugs