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: rs1339693179
rs1339693179
3 0.882 0.120 2 232379613 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1413274209
rs1413274209
3 0.882 0.080 1 21577544 missense variant G/A snv 8.3E-06 2.1E-05 0.800 0
dbSNP: rs1196976671
rs1196976671
1 1.000 0.080 1 21577475 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs966212736
rs966212736
1 1.000 0.080 1 21577427 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs150799088
rs150799088
2 0.925 0.080 1 21577422 missense variant G/A snv 7.7E-05 7.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs138690664
rs138690664
4 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs1553415041
rs1553415041
1 1.000 0.080 1 21577406 missense variant T/C snv 0.700 1.000 20 1992 2013
dbSNP: rs121918006
rs121918006
2 0.925 0.080 1 21576638 missense variant T/C snv 0.700 1.000 20 1992 2013
dbSNP: rs121918014
rs121918014
5 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.700 1.000 20 1992 2013
dbSNP: rs1442918125
rs1442918125
2 0.925 0.080 1 21575907 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs371243939
rs371243939
3 0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs771540767
rs771540767
3 0.882 0.080 1 21575879 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs121918008
rs121918008
4 0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06 0.800 1.000 20 1992 2013
dbSNP: rs1553414568
rs1553414568
1 1.000 0.080 1 21575797 missense variant G/C snv 0.700 1.000 20 1992 2013
dbSNP: rs1553414563
rs1553414563
1 1.000 0.080 1 21575777 missense variant G/A snv 0.700 1.000 20 1992 2013
dbSNP: rs121918009
rs121918009
4 0.851 0.080 1 21575736 missense variant G/A snv 0.800 1.000 20 1992 2013
dbSNP: rs121918010
rs121918010
5 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.800 1.000 21 1992 2013
dbSNP: rs763457259
rs763457259
1 1.000 0.080 1 21573733 missense variant G/A snv 7.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs1220125702
rs1220125702
1 1.000 0.080 1 21573686 missense variant T/C snv 8.0E-06 7.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs121918002
rs121918002
4 0.851 0.080 1 21573683 missense variant A/C snv 3.6E-05 7.0E-05 0.800 1.000 20 1992 2013
dbSNP: rs1553414079
rs1553414079
1 1.000 0.080 1 21573682 missense variant G/T snv 0.700 1.000 20 1992 2013
dbSNP: rs765458125
rs765458125
1 1.000 0.080 1 21573676 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs786204473
rs786204473
4 0.925 0.080 1 21573673 missense variant G/A snv 0.700 1.000 20 1992 2013
dbSNP: rs781272386
rs781272386
3 0.882 0.080 1 21570327 missense variant G/A;C;T snv 8.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 20 1992 2013
dbSNP: rs751625937
rs751625937
1 1.000 0.080 1 21570314 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001