Source: ALL
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: rs371642320
rs371642320
LUC7L
1 16 193807 intron variant TTTT/-;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs374588807
rs374588807
UBE2L3
1 22 21584179 intron variant TTT/-;T;TT;TTTT;TTTTT delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs532398216
rs532398216 		5 16 182398 downstream gene variant TGAG/- delins 2.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs57583458
rs57583458
FAM222B
1 17 28779752 intron variant TAAATAAATAAATAAATAAATAAATAAA/-;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.700 1.000 2 2013 2019
dbSNP: rs10484435
rs10484435
H3C2
2 1.000 0.040 6 26031583 upstream gene variant T/G snv 7.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs10500722
rs10500722
SBF2
1 11 10213811 intron variant T/G snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs1078792
rs1078792 		1 6 30451843 non coding transcript exon variant T/G snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs11042714
rs11042714
SBF2
1 11 10274104 intron variant T/G snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs11079719
rs11079719
LINC02210-CRHR1
1 17 45762640 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11240370
rs11240370
DSTYK
1 1 205149208 intron variant T/G snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs1172136
rs1172136
TMCC2
1 1 205277969 intron variant T/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1172151
rs1172151
TMCC2
1 1 205252531 intron variant T/G snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs1172154
rs1172154
TMCC2
1 1 205251511 intron variant T/G snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs11753329
rs11753329
USP49
2 6 41820642 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11754384
rs11754384 		2 1.000 0.040 6 26322757 upstream gene variant T/G snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs11758774
rs11758774
HBS1L
1 6 135062651 intron variant T/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs12198182
rs12198182
SESN1
1 6 108997501 intron variant T/G snv 9.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs12206834
rs12206834
ARMC2
1 6 108982764 downstream gene variant T/G snv 9.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs12435835
rs12435835
FNTB ; MAX ; CHURC1-FNTB
2 14 65033191 intron variant T/G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs12456616
rs12456616 		1 18 46133098 downstream gene variant T/G snv 6.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs12525376
rs12525376
SCGN
1 6 25666456 intron variant T/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs12669559
rs12669559
IKZF1
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2012 2012
dbSNP: rs1321353
rs1321353
LOC105372710
1 20 62439625 intron variant T/G snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs13311361
rs13311361
DDC ; FIGNL1
1 7 50481310 intron variant T/G snv 0.55 0.700 1.000 1 2012 2012