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: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
dbSNP: rs10109552
rs10109552
1 1.000 0.040 8 18451300 intergenic variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs4690686
rs4690686
1 1.000 0.040 4 176321808 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6431308
rs6431308
1 1.000 0.040 2 234898985 intron variant A/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs6675307
rs6675307
1 1.000 0.040 1 90181314 intergenic variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs893787
rs893787
1 1.000 0.040 2 12046209 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs10812774
rs10812774
2 0.925 0.040 9 28294233 intron variant T/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs1129647
rs1129647
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2006 2006
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs116920450
rs116920450
1 1.000 0.040 17 50575769 missense variant G/A;T snv 6.8E-03; 6.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1186902
rs1186902
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs12200969
rs12200969
1 1.000 0.040 6 89217247 missense variant T/C snv 0.31 0.37 0.010 1.000 1 2011 2011
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs13313467
rs13313467
1 1.000 0.040 15 77673826 intron variant C/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs138287627
rs138287627
1 1.000 0.040 22 29297943 missense variant C/T snv 6.8E-05 9.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs138607170
rs138607170
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs146603794
rs146603794
1 1.000 0.040 6 89198164 missense variant A/G snv 5.2E-04 2.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs1472351089
rs1472351089
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1521179
rs1521179
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs16976358
rs16976358
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17550360
rs17550360
1 1.000 0.040 8 16993092 missense variant C/A;T snv 4.0E-05; 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs177008
rs177008
1 1.000 0.040 X 125567397 intergenic variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1800435
rs1800435
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 < 0.001 1 2017 2017