Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2247876
rs2247876
FBN1
1.000 0.040 15 48639254 intron variant T/A;C snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		0.700 1.000 1 2011 2011
dbSNP: rs2247876
rs2247876
FBN1
1.000 0.040 15 48639254 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019