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: rs6031431
rs6031431
JPH2
4 20 44166512 intron variant A/G snv 0.46 0.700 1.000 2 2018 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 2 2018 2018
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2011 2016
dbSNP: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 2 2018 2018
dbSNP: rs72806698
rs72806698
EML6
3 2 54742242 intron variant C/T snv 0.13 0.700 1.000 2 2018 2018
dbSNP: rs751984
rs751984
LRRC10B
4 11 61510774 3 prime UTR variant T/C snv 0.16 0.700 1.000 2 2015 2018
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs8098380
rs8098380
YES1
4 18 721563 downstream gene variant A/C snv 0.33 0.700 1.000 2 2018 2018
dbSNP: rs900145
rs900145 		4 11 13272358 upstream gene variant C/T snv 0.62 0.700 1.000 2 2016 2018
dbSNP: rs10003632
rs10003632
IQCM
1 4 149563756 missense variant G/T snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs1005902
rs1005902
HECTD4
1 12 112229871 missense variant T/C;G snv 4.1E-06; 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10059884
rs10059884 		5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10191770
rs10191770 		1 2 114179758 intergenic variant T/C snv 8.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs10204405
rs10204405 		1 2 164191236 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs1020992
rs1020992 		1 5 114804484 intergenic variant T/A snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10485552
rs10485552
KIF16B
1 20 16451011 intron variant T/C snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs10504249
rs10504249
LINC01602 ; LOC105375856
3 8 57876522 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs1060407
rs1060407
MAP4
1 3 47916547 missense variant G/A;T snv 4.0E-06; 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10766309
rs10766309
SOX6
2 11 16235171 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs10826334
rs10826334 		3 10 59620724 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
3 11 2631427 non coding transcript exon variant T/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10840138
rs10840138
MRPL23
2 11 1980665 intron variant T/C snv 8.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs10897164
rs10897164
LRRC10B
3 11 61510303 3 prime UTR variant A/G snv 0.13 0.700 1.000 1 2018 2018