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: rs1060502990
rs1060502990
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs121918666
rs121918666
3 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1554038257
rs1554038257
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554042899
rs1554042899
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs1554043139
rs1554043139
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs1555899640
rs1555899640
1 1.000 0.040 20 63661935 frameshift variant TC/- delins 0.700 0
dbSNP: rs199422294
rs199422294
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs74597325
rs74597325
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs776525427
rs776525427
1 1.000 0.040 20 63695387 stop gained C/G;T snv 1.0E-05 7.0E-06 0.700 0
dbSNP: rs121917835
rs121917835
2 0.925 0.040 8 22164010 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121917737
rs121917737
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs121917738
rs121917738
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2227307
rs2227307
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2011 2011
dbSNP: rs8182352
rs8182352
5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs11568818
rs11568818
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11568819
rs11568819
2 1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs12602273
rs12602273
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2305619
rs2305619
3 0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50 0.010 1.000 1 2012 2012
dbSNP: rs397728201
rs397728201
4 0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2012 2012