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: rs12790427
rs12790427
PCNX3
3 11 65617256 synonymous variant C/G;T snv 1.7E-05; 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784
MECOM
6 3 169379112 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12978472
rs12978472
INSR
5 19 7257979 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1502284
rs1502284
ARHGAP42
2 11 100713419 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs167479
rs167479
RGL3
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs198812
rs198812
H2AC6
2 6 26128182 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs198846
rs198846
H1-6
7 6 26107235 downstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs198851
rs198851
H4C3
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2013002
rs2013002 		5 12 111762346 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2076460
rs2076460 		2 1 27645547 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2125067
rs2125067
GDF10
3 10 47304942 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2681485
rs2681485
ATP2B1
3 12 89631845 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2990220
rs2990220
GBAP1
3 1 155220463 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs34071855
rs34071855
CASZ1
4 1 10738432 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35346340
rs35346340
FES
2 15 90884642 splice region variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3853476
rs3853476
SPRY4-AS1
2 5 142438189 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs419076
rs419076
MECOM
6 3 169383098 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs4475251
rs4475251 		3 5 115039988 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs448378
rs448378
MECOM
5 1.000 0.040 3 169383111 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4660293
rs4660293
PABPC4
5 1 39562508 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2016 2016