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: rs121917742
rs121917742
REN
1 1.000 0.120 1 204159399 missense variant C/T snv 4.0E-06 0.800 1.000 1 2005 2005
dbSNP: rs121917741
rs121917741
REN
1 1.000 0.120 1 204162117 stop gained G/A snv 4.8E-05 1.4E-05 0.700 0
dbSNP: rs397514690
rs397514690
REN
1 1.000 0.120 1 204162135 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs397514691
rs397514691
REN
1 1.000 0.120 1 204160648 missense variant G/T snv 0.700 0
dbSNP: rs868694193
rs868694193
REN
2 1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 0.700 0