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: rs121918283
rs121918283
1 1.000 0.080 11 61959511 inframe deletion TCA/- delins 7.0E-06 0.700 0
dbSNP: rs121918285
rs121918285
1 1.000 0.080 11 61951893 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1554963058
rs1554963058
1 1.000 0.080 11 61959518 missense variant C/A;G snv 0.700 0
dbSNP: rs1554963095
rs1554963095
1 1.000 0.080 11 61959540 missense variant G/A snv 0.700 0
dbSNP: rs1555098634
rs1555098634
1 1.000 0.080 11 61955195 missense variant G/A snv 0.700 0
dbSNP: rs1555099968
rs1555099968
1 1.000 0.080 11 61956897 missense variant A/G snv 0.700 0
dbSNP: rs1565382549
rs1565382549
1 1.000 0.080 11 61951892 missense variant A/G snv 0.700 0
dbSNP: rs1805143
rs1805143
1 1.000 0.080 11 61959519 missense variant C/G;T snv 4.0E-06 0.800 0
dbSNP: rs1805144
rs1805144
1 1.000 0.080 11 61959530 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs267606677
rs267606677
2 0.925 0.080 11 61957430 missense variant A/G snv 0.700 0
dbSNP: rs281865528
rs281865528
1 1.000 0.080 11 61962622 frameshift variant CA/- delins 0.700 0
dbSNP: rs672601356
rs672601356
1 1.000 0.080 11 61955124 frameshift variant -/CA delins 0.700 0
dbSNP: rs281865218
rs281865218
1 1.000 0.080 11 61951895 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 20 1998 2012
dbSNP: rs281865238
rs281865238
4 0.851 0.080 11 61957402 missense variant C/A;T snv 0.800 1.000 20 1998 2019
dbSNP: rs28940274
rs28940274
1 1.000 0.080 11 61955723 missense variant T/C snv 0.810 1.000 20 1998 2019
dbSNP: rs28941469
rs28941469
1 1.000 0.080 11 61957429 missense variant T/A snv 0.810 1.000 20 1998 2019
dbSNP: rs121918284
rs121918284
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.810 1.000 19 1998 2012
dbSNP: rs281865205
rs281865205
1 1.000 0.080 11 61951832 missense variant T/C;G snv 0.800 1.000 19 1998 2012
dbSNP: rs281865214
rs281865214
1 1.000 0.080 11 61951879 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 4.0E-06 0.710 1.000 19 1998 2012
dbSNP: rs281865223
rs281865223
2 0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06 0.710 1.000 19 1998 2018
dbSNP: rs281865239
rs281865239
3 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.810 1.000 19 1998 2015
dbSNP: rs281865258
rs281865258
2 0.925 0.080 11 61959528 missense variant G/A snv 0.710 1.000 19 1998 2019
dbSNP: rs281865265
rs281865265
1 1.000 0.080 11 61959544 missense variant T/C snv 0.710 1.000 19 1998 2011
dbSNP: rs281865267
rs281865267
1 1.000 0.080 11 61959548 missense variant G/C snv 0.710 1.000 19 1998 2015
dbSNP: rs28940273
rs28940273
2 0.925 0.080 11 61955749 stop gained G/A;C snv 0.810 1.000 19 1998 2017