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: rs2195450
rs2195450
3 0.925 0.040 5 153491449 intron variant G/A snv 0.17 0.020 0.500 2 2014 2015
dbSNP: rs548294
rs548294
2 1.000 0.040 5 153488877 upstream gene variant T/C snv 0.62 0.010 < 0.001 1 2014 2014