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: rs1293789661
rs1293789661
7 0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs1553853557
rs1553853557
4 0.882 0.040 3 184346710 missense variant T/G snv 0.700 0
dbSNP: rs1553856214
rs1553856214
5 0.882 0.040 3 184356994 stop gained T/A snv 0.700 0
dbSNP: rs1553857113
rs1553857113
4 0.882 0.040 3 184359119 missense variant A/T snv 0.700 0
dbSNP: rs758379595
rs758379595
5 0.882 0.040 3 184359130 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs786205050
rs786205050
7 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1085307938
rs1085307938
2 0.925 0.040 3 184359124 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs11221497
rs11221497
3 0.882 0.120 11 128890715 upstream gene variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1161255880
rs1161255880
2 1.000 0.040 9 113044209 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1187880216
rs1187880216
2 1.000 0.040 12 57475293 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs12410453
rs12410453
2 0.925 0.040 1 119410216 upstream gene variant G/A snv 4.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs151052374
rs151052374
1 1.000 0.040 8 142915200 missense variant A/T snv 1.3E-04 9.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2010 2010
dbSNP: rs2604204
rs2604204
3 0.882 0.120 11 128917535 3 prime UTR variant G/T snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs3740835
rs3740835
1 1.000 0.040 11 128900463 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs374206521
rs374206521
2 1.000 0.040 21 42762099 missense variant C/G;T snv 1.6E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3772616
rs3772616
2 0.925 0.120 3 148720404 intron variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs386352318
rs386352318
4 0.925 0.080 11 128911776 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs386352319
rs386352319
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs4937391
rs4937391
2 0.925 0.080 11 128916399 intron variant G/A;C snv 0.73 0.010 1.000 1 2013 2013
dbSNP: rs57920071
rs57920071
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs61751148
rs61751148
1 1.000 0.040 8 142877177 missense variant T/A;C snv 1.1E-04; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs6203
rs6203
4 0.851 0.120 1 119514535 synonymous variant C/T snv 0.45 0.35 0.010 1.000 1 2013 2013
dbSNP: rs746967306
rs746967306
2 0.925 0.080 16 1218616 missense variant T/A snv 1.0E-04 5.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs866674368
rs866674368
1 1.000 0.040 19 39706652 missense variant G/A snv 0.010 1.000 1 2018 2018