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: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs776969714
rs776969714
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs1563945076
rs1563945076
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.020 1.000 2 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2006 2006
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs4704559
rs4704559
4 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2019 2019
dbSNP: rs4911871
rs4911871
1 1.000 0.080 X 114762580 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs2293054
rs2293054
2 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs56984562
rs56984562
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs267606670
rs267606670
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs1267306614
rs1267306614
1 1.000 0.080 3 114171850 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs147484110
rs147484110
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2009 2018
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.030 1.000 3 2003 2009
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2009 2012
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2019 2019
dbSNP: rs387907128
rs387907128
2 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0