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: rs10518133
rs10518133
1 4 75025495 intron variant G/A snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs16946160
rs16946160
1 13 91551559 intron variant G/A snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs201899638
rs201899638
1 9 9932324 intron variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs397514479
rs397514479
2 1.000 14 73961339 missense variant C/A snv 0.010 1.000 1 2020 2020
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: rs487575
rs487575
1 3 187880609 intergenic variant C/T snv 0.23 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: rs6020178
rs6020178
1 20 49987403 intron variant T/C snv 0.35 0.010 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: rs1569504068
rs1569504068
2 1.000 X 108655388 frameshift variant G/- del 0.700 0
dbSNP: rs139994842
rs139994842
3 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 0.010 1.000 1 2018 2018
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: rs267606919
rs267606919
2 1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05 0.700 1.000 3 2002 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: rs1437439236
rs1437439236
3 0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 0.010 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: rs3124599
rs3124599
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs437168
rs437168
2 1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 0.010 1.000 1 2015 2015