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: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2002 2003
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2002 2003
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs63751068
rs63751068
PSEN1
6 0.827 0.120 14 73186920 missense variant G/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs752933837
rs752933837
PRKCG
2 1.000 0.080 19 53906776 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs766001707
rs766001707
ATXN3
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs119467003
rs119467003
TDP1
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs35801418
rs35801418
LRRK2
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs80356740
rs80356740
TARDBP
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 < 0.001 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2011
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs407135
rs407135
SLC11A2
3 0.925 0.120 12 51017570 intron variant G/T snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs63750869
rs63750869
MAPT
6 0.827 0.160 17 46018707 missense variant G/A snv 2.4E-05 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012