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: rs201216664
rs201216664
NME2 ; NME1-NME2
5 0.851 0.080 17 51171503 missense variant A/G snv 0.020 1.000 2 1995 1999
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: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 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 0.020 1.000 2 2017 2018
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: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs11037575
rs11037575
HSD17B12
4 0.882 0.080 11 43706780 intron variant T/C snv 0.36 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: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
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: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
4 0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1211164799
rs1211164799
DLX4
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs121908531
rs121908531
DNM1L ; YARS2
4 0.851 0.080 12 32731118 missense variant C/A;G snv 0.010 1.000 1 2012 2012
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