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: rs193920894
rs193920894
2 0.925 0.080 17 49619281 missense variant A/C snv 0.700 0
dbSNP: rs1057519966
rs1057519966
3 0.882 0.080 17 49619064 missense variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519972
rs1057519972
3 0.882 0.080 17 49619327 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs727502792
rs727502792
3 0.925 0.080 17 49601958 missense variant T/A snv 0.010 1.000 1 2014 2014