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: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.020 1.000 2 2006 2014
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.820 1.000 19 1994 2015
dbSNP: rs121918505
rs121918505
5 0.851 0.080 10 121520119 missense variant A/G snv 0.710 1.000 1 2001 2001
dbSNP: rs121918499
rs121918499
2 0.925 0.160 10 121520048 missense variant C/A;G snv 0.840 1.000 16 1995 2019
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.810 1.000 14 1995 2015
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2004 2004
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.820 1.000 15 1995 2014
dbSNP: rs1358919643
rs1358919643
1 1.000 0.080 10 121517463 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 1995 1998
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1554552774
rs1554552774
2 0.925 0.200 8 38418227 splice donor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs879253719
rs879253719
1 1.000 0.080 10 121517464 splice acceptor variant C/T snv 0.700 0
dbSNP: rs886037837
rs886037837
1 1.000 0.080 10 121520037 inframe deletion CGTGCTTGATCCACTGGA/- delins 0.700 0
dbSNP: rs1554570706
rs1554570706
2 0.925 0.200 8 38429808 missense variant G/A snv 0.700 1.000 2 2006 2017
dbSNP: rs1554570813
rs1554570813
2 0.925 0.200 8 38429826 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 9 1995 2015
dbSNP: rs121918502
rs121918502
9 0.790 0.160 10 121517351 missense variant G/C snv 0.820 1.000 15 1995 2014
dbSNP: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.850 1.000 11 1994 2014
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.760 1.000 6 1998 2014
dbSNP: rs374608214
rs374608214
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1057519037
rs1057519037
2 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 0
dbSNP: rs121918503
rs121918503
1 1.000 0.080 10 121520098 inframe deletion GTC/- delins 0.700 0