Source: CURATED ×
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: rs2266959
rs2266959
UBE2L3
9 0.776 0.200 22 21568615 intron variant G/T snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs2413583
rs2413583 		3 0.925 0.040 22 39263768 intron variant C/T snv 0.19 0.800 1.000 2 2012 2017
dbSNP: rs1003342
rs1003342
HORMAD2
1 22 30174033 intron variant A/G snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs12627970
rs12627970 		2 1.000 0.080 22 39325740 TF binding site variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs130555
rs130555
SYN3
2 1.000 0.040 22 32787803 intron variant C/T snv 0.77 0.700 1.000 1 2014 2014
dbSNP: rs2143178
rs2143178 		6 0.827 0.120 22 39264824 intron variant T/C snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs2266961
rs2266961
UBE2L3
7 0.807 0.160 22 21574308 intron variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs2412970
rs2412970
HORMAD2
1 22 30090837 intron variant A/G snv 0.55 0.800 1.000 1 2012 2012
dbSNP: rs2412973
rs2412973
HORMAD2
2 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.810 1.000 1 2009 2009
dbSNP: rs4821558
rs4821558
CSF2RB
1 22 36912743 upstream gene variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs5763767
rs5763767
HORMAD2
3 0.925 0.040 22 30097893 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2836878
rs2836878 		6 0.851 0.200 21 39093608 intergenic variant G/A snv 0.23 0.800 1.000 3 2008 2017
dbSNP: rs2284553
rs2284553
IFNGR2
6 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.700 1.000 2 2015 2017
dbSNP: rs2823286
rs2823286
LOC101927745
3 0.925 0.040 21 15445619 intron variant G/A snv 0.28 0.800 1.000 2 2012 2017
dbSNP: rs7282490
rs7282490
GATD3A
4 0.882 0.080 21 44195858 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs1297258
rs1297258
LOC101927745
1 21 15434390 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs2836883
rs2836883 		4 0.882 0.080 21 39094818 intergenic variant G/A snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs2839073
rs2839073 		1 21 45953845 regulatory region variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs8127691
rs8127691
GATD3A ; LOC105377139
1 21 44194977 intron variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs259964
rs259964
ZNF831
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs913678
rs913678 		5 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.800 1.000 3 2012 2017
dbSNP: rs6062496
rs6062496
TNFRSF6B ; RTEL1-TNFRSF6B
6 0.827 0.120 20 63697746 intron variant G/A snv 0.52 0.700 1.000 2 2015 2017
dbSNP: rs1569723
rs1569723 		6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs2315008
rs2315008
ZGPAT
3 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs4243971
rs4243971 		6 0.827 0.120 20 32261714 intergenic variant T/G snv 0.64 0.700 1.000 1 2015 2015