Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12130333
rs12130333 		4 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.800 1.000 4 2008 2019