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: rs12994997
rs12994997
2 1.000 0.040 2 233264857 intron variant G/A;C snv 0.45; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs6752107
rs6752107
2 1.000 0.040 2 233252802 intron variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
dbSNP: rs1474156473
rs1474156473
3 0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs901312933
rs901312933
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.010 1.000 1 2007 2007