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: rs1245314
rs1245314
1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17111230
rs17111230
1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs2474937
rs2474937
6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs2844660
rs2844660
1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs56409046
rs56409046
1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs75661265
rs75661265
1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7941395
rs7941395
1 11 67579946 upstream gene variant A/G snv 0.38 0.010 1.000 1 2017 2017
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
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs12921862
rs12921862
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs492842
rs492842
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2850144
rs2850144
CBS
1 21 43076866 5 prime UTR variant C/G snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs121912594
rs121912594
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs114878910
rs114878910
4 0.882 0.080 9 37784894 stop gained G/A;C snv 8.6E-06; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs3832879
rs3832879
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs200478425
rs200478425
2 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs387906772
rs387906772
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4808863
rs4808863
5 0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2015 2015
dbSNP: rs374016704
rs374016704
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs11752813
rs11752813
1 6 42960279 upstream gene variant C/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs727504412
rs727504412
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs57920071
rs57920071
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004