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: rs369947678
rs369947678
UBQLN2
2 0.925 0.080 X 56565446 missense variant C/A;G;T snv 2.0E-05; 2.7E-05; 3.3E-04 0.700 0
dbSNP: rs757200716
rs757200716
ESR1
5 0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.010 1.000 1 1995 1995
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs121912455
rs121912455
SOD1
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs377633002
rs377633002
SLC1A2
1 1.000 0.080 11 35315097 missense variant G/C snv 2.2E-04 3.7E-04 0.010 1.000 1 1998 1998
dbSNP: rs946135215
rs946135215
NEFH ; LOC107985541
1 1.000 0.080 22 29480368 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs121912459
rs121912459
SOD1
2 0.925 0.080 21 31667307 missense variant G/A snv 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs777153938
rs777153938
SOD2
1 1.000 0.080 6 159692615 missense variant T/G snv 0.010 1.000 1 2001 2001
dbSNP: rs115796194
rs115796194
IL1R1
1 1.000 0.080 2 102171877 synonymous variant A/G snv 1.1E-03 5.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs1380437028
rs1380437028
IL1RN
1 1.000 0.080 2 113132708 missense variant C/G snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1438565133
rs1438565133
SLC1A3
5 0.827 0.120 5 36674078 missense variant C/G snv 4.0E-06 0.030 1.000 3 2000 2003
dbSNP: rs1363867515
rs1363867515
EIF4E
1 1.000 0.080 4 98901908 synonymous variant T/C snv 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs1800435
rs1800435
ALAD
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 1.000 1 2003 2003
dbSNP: rs759338099
rs759338099
CDK6
2 0.925 0.160 7 92833212 missense variant G/C snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs771480057
rs771480057
CHRM3
1 1.000 0.080 1 239907544 synonymous variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs779467346
rs779467346
ATP11A
1 1.000 0.080 13 112785188 synonymous variant G/A snv 1.3E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121909344
rs121909344
DCTN1
2 0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs752612830
rs752612830
ATG5
1 1.000 0.080 6 106316116 synonymous variant T/C snv 8.0E-06 4.9E-05 0.020 1.000 2 2003 2005
dbSNP: rs768029813
rs768029813
SOD1 ; LOC102724449
2 0.925 0.080 21 31659828 missense variant A/G snv 8.4E-05 4.2E-05 0.020 1.000 2 2003 2005
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs752153816
rs752153816
VEGFA
3 0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1468241410
rs1468241410
ACTBL2 ; LOC102724122
1 1.000 0.080 5 57482262 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2251644
rs2251644
DYNC1H1
1 1.000 0.080 14 102001510 intron variant A/G snv 0.17 0.21 0.010 < 0.001 1 2006 2006