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: rs104893736
rs104893736
5 0.827 0.040 3 186539566 missense variant C/A snv 0.800 1.000 1 2005 2005
dbSNP: rs1184398243
rs1184398243
1 1.000 3 186539503 missense variant G/C snv 4.0E-06 0.700 0