Source: BEFREE

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: rs317250
rs317250 		1.000 2 76036546 intron variant C/T snv 0.96
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2016 2016