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: rs10840002
rs10840002 		3 0.882 0.080 11 8221479 downstream gene variant A/G snv 0.49 0.040 1.000 4 2016 2020
dbSNP: rs204938
rs204938
LMO1
3 0.882 0.080 11 8256650 intron variant C/T snv 0.49 0.040 1.000 4 2016 2020
dbSNP: rs4758051
rs4758051 		3 0.882 0.080 11 8217092 intergenic variant G/A snv 0.42 0.040 1.000 4 2016 2020
dbSNP: rs4712653
rs4712653
CASC15
3 0.882 0.080 6 22125735 intron variant T/C;G snv 0.030 1.000 3 2016 2017
dbSNP: rs9295536
rs9295536
CASC15
3 0.882 0.080 6 22131700 intron variant C/A snv 0.58 0.030 1.000 3 2016 2017
dbSNP: rs17489363
rs17489363
BARD1 ; SNHG31
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs6441201
rs6441201
RSRC1
3 0.882 0.080 3 158460535 intron variant G/A snv 0.51 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: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs110420
rs110420
LMO1 ; LOC105376536
3 0.882 0.080 11 8231502 intron variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11247957
rs11247957
LIN28A
3 0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs1211164799
rs1211164799
DLX4
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs12442054
rs12442054 		3 0.882 0.080 15 74165683 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1273925499
rs1273925499
MAPT
3 0.882 0.080 17 45991557 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1301478248
rs1301478248
CASP9
3 0.882 0.080 1 15495395 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs13034994
rs13034994
MYCNOS
3 0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs138085133
rs138085133
EXTL1 ; LOC101928216
3 0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1415224147
rs1415224147
MAPKAP1
3 0.882 0.080 9 125585715 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs143864187
rs143864187
CASP4
3 0.882 0.080 11 104949666 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1442511697
rs1442511697
ADRA2B
3 0.882 0.080 2 96115494 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs145976111
rs145976111
ITGB4
3 0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs147480547
rs147480547
ITGB4
3 0.882 0.080 17 75740047 missense variant G/A;T snv 1.1E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs147992979
rs147992979
NTRK3
3 0.882 0.080 15 88184270 missense variant G/A snv 8.0E-05 4.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs17065417
rs17065417
LIN28B
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs17487792
rs17487792
BARD1
3 0.882 0.080 2 214778776 intron variant C/T snv 0.16 0.010 1.000 1 2019 2019