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: rs112348497
rs112348497 		1 1.000 0.080 21 43207769 intergenic variant -/C delins 0.20 0.700 1.000 1 2017 2017
dbSNP: rs199961668
rs199961668 		1 1.000 0.080 7 471253 intergenic variant -/C delins 0.700 1.000 1 2017 2017
dbSNP: rs58788673
rs58788673 		7 0.807 0.080 7 46864701 intergenic variant -/CA ins 0.22 0.700 1.000 1 2017 2017
dbSNP: rs3138869
rs3138869
AR
2 0.925 0.080 X 67546514 frameshift variant -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 1.000 1 2014 2014
dbSNP: rs201796065
rs201796065 		1 1.000 0.080 2 176481554 intergenic variant A/- delins 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs35534179
rs35534179
MTX2
1 1.000 0.080 2 176312686 intron variant A/- delins 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs34247753
rs34247753
TARDBP
1 1.000 0.080 1 11014942 intron variant A/-;AA delins 0.700 1.000 1 2017 2017
dbSNP: rs34991987
rs34991987
LOC105375343
7 0.807 0.080 7 69130240 downstream gene variant A/-;AA delins 0.700 1.000 1 2017 2017
dbSNP: rs35689231
rs35689231
C2orf42
1 1.000 0.080 2 70185409 intron variant A/-;AA delins 0.43 0.700 1.000 1 2017 2017
dbSNP: rs10516537
rs10516537
LOC105377356
1 1.000 0.080 4 106706914 intron variant A/C snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs56349397
rs56349397
HDAC9
1 1.000 0.080 7 18825739 intron variant A/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs6113491
rs6113491 		2 0.925 0.080 20 22076777 downstream gene variant A/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs690333
rs690333 		1 1.000 0.080 21 44752760 regulatory region variant A/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs745977
rs745977 		1 1.000 0.080 2 67854177 regulatory region variant A/C snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs9398035
rs9398035 		1 1.000 0.080 6 105593507 downstream gene variant A/C snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs11243290
rs11243290
HULC ; LOC105374914
1 1.000 0.080 6 9000190 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs145226407
rs145226407 		1 1.000 0.080 17 57154240 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs29073
rs29073 		1 1.000 0.080 18 9971793 regulatory region variant A/C;G snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs997683
rs997683
TCF12
1 1.000 0.080 15 57249706 intron variant A/C;T snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 1.000 4 2006 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2013
dbSNP: rs10903128
rs10903128 		1 1.000 0.080 1 25036847 upstream gene variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs10919382
rs10919382 		1 1.000 0.080 1 170392023 intergenic variant A/G snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 1.000 1 2010 2010