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: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
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: rs377522479
rs377522479
ARHGAP24
4 0.882 0.080 4 85931021 missense variant C/T snv 2.0E-05 3.5E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs749098599
rs749098599
TP73
4 0.882 0.080 1 3683085 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2001 2001
dbSNP: rs771723690
rs771723690
ARHGAP24
3 0.882 0.080 4 85570622 synonymous variant G/A snv 1.6E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.020 0.500 2 2019 2019
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.100 0.900 10 2011 2019
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.100 1.000 15 2008 2019
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
dbSNP: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.080 1.000 8 1995 2018
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2003 2018
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.050 1.000 5 2003 2018
dbSNP: rs110419
rs110419
LMO1 ; LOC105376536
8 0.827 0.200 11 8231306 intron variant A/G snv 0.42 0.050 1.000 5 2015 2020
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
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: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.040 1.000 4 2002 2011
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 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: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.040 1.000 4 2008 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2017 2019