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: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.060 0.833 6 2004 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2004 2004
dbSNP: rs74315343
rs74315343
5 0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs119473033
rs119473033
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 1.000 3 2002 2014
dbSNP: rs199840952
rs199840952
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs869025224
rs869025224
7 0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs121912491
rs121912491
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs487575
rs487575
1 3 187880609 intergenic variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs10518133
rs10518133
1 4 75025495 intron variant G/A snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs59882675
rs59882675
BTC
1 4 74763902 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs33389
rs33389
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1063348
rs1063348
2 1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs2222722
rs2222722
2 1.000 0.080 6 71404009 intron variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2637678
rs2637678
1 6 116466215 upstream gene variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs2746419
rs2746419
1 6 135332717 intron variant A/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs28366266
rs28366266
1 6 32591976 upstream gene variant T/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs2858317
rs2858317
1 6 32694503 intergenic variant C/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs2858829
rs2858829
2 1.000 0.040 6 116447754 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs4431401
rs4431401
1 6 85479802 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs4642516
rs4642516
1 6 32689766 TF binding site variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9273542
rs9273542
1 6 32661035 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9348883
rs9348883
1 6 32390772 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9444348
rs9444348
2 6 85465856 intron variant G/A snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013