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: rs7626962
rs7626962
3 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.750 0.800 0 2006 2011
dbSNP: rs199473604
rs199473604
2 0.882 0.120 3 38560394 missense variant G/T snv 0.710 1.000 2 2008 2009
dbSNP: rs199473190
rs199473190
1 1.000 0.040 3 38579474 missense variant C/G;T snv 8.2E-06 0.700 1.000 3 2008 2011
dbSNP: rs199473627
rs199473627
1 1.000 0.040 3 38551258 missense variant A/G snv 0.700 1.000 3 2008 2011
dbSNP: rs199473573
rs199473573
2 0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2008 2009
dbSNP: rs121909281
rs121909281
2 0.925 0.120 3 8733916 missense variant G/A;C snv 4.3E-04 0.700 1.000 1 2007 2007
dbSNP: rs121909282
rs121909282
2 0.925 0.120 3 8745647 missense variant T/G snv 1.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs147316959
rs147316959
1 1.000 0.040 12 21765962 missense variant C/T snv 9.9E-05 3.1E-04 0.700 0
dbSNP: rs199472728
rs199472728
2 0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04 0.700 0
dbSNP: rs199473097
rs199473097
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs45546039
rs45546039
10 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs72546668
rs72546668
3 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
dbSNP: rs757532106
rs757532106
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0