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: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.020 1.000 2 2014 2018
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
dbSNP: rs17065417
rs17065417
LIN28B
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.810 1.000 2 2012 2017
dbSNP: rs221634
rs221634
LIN28B
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs35850753
rs35850753
TP53
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.710 1.000 2 2014 2017
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 2000 2001
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
dbSNP: rs6441201
rs6441201
RSRC1
3 0.882 0.080 3 158460535 intron variant G/A snv 0.51 0.720 1.000 2 2017 2018
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.020 1.000 2 1997 2000
dbSNP: rs7587476
rs7587476
BARD1
1 1.000 0.040 2 214789163 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs863225285
rs863225285
ALK
5 0.851 0.080 2 29209789 missense variant T/G snv 0.020 1.000 2 2017 2018
dbSNP: rs10055201
rs10055201
IL31RA
3 0.882 0.080 5 55865274 intron variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs10131293
rs10131293
LOC105370401
1 1.000 0.040 14 22461166 intron variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10132733
rs10132733
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22477241 intron variant A/G snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs10142552
rs10142552
LOC105370401
1 1.000 0.040 14 22395232 intron variant G/A snv 3.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs10148895
rs10148895 		1 1.000 0.040 14 22254840 intron variant C/T snv 0.18 0.700 1.000 1 2009 2009
dbSNP: rs10155916
rs10155916
LOC107986784
1 1.000 0.040 7 38286177 intergenic variant G/A snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs10162417
rs10162417
LOC105370401
1 1.000 0.040 14 22460708 intron variant T/G snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1040303
rs1040303
LOC105370401
1 1.000 0.040 14 22403377 intron variant G/A snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs10441090
rs10441090 		1 1.000 0.040 7 38295217 upstream gene variant C/T snv 0.13 0.700 1.000 1 2009 2009