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: rs137854859
rs137854859
LTBP2
1 1.000 0.040 14 74529111 missense variant T/C;G snv 1.3E-05 0.700 0
dbSNP: rs137854864
rs137854864
LTBP2
1 1.000 0.040 14 74503490 missense variant T/C snv 8.5E-05 5.6E-05 0.700 0
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.900 0.955 44 2007 2019
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.100 0.892 37 2008 2019
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.800 1.000 23 2008 2019
dbSNP: rs3087554
rs3087554
CLU ; EPHX2
1 1.000 0.040 8 27597925 3 prime UTR variant T/C snv 0.23 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2012
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2009 2009
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2010 2010
dbSNP: rs12914489
rs12914489
TBC1D21
2 1.000 0.040 15 73895596 intergenic variant G/A;T snv 8.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs216541
rs216541
SPAST
1 1.000 0.040 2 32130481 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1404699
rs1404699
CNTNAP2
1 1.000 0.040 7 147343214 intron variant G/A snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs7803992
rs7803992
CNTNAP2
1 1.000 0.040 7 147343905 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs781952083
rs781952083
ELN
1 1.000 0.040 7 74043894 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs863223526
rs863223526
ELN
1 1.000 0.040 7 74046710 frameshift variant G/- delins 0.010 1.000 1 2012 2012
dbSNP: rs41435250
rs41435250
LOXL1 ; LOXL1-AS1
2 0.925 0.040 15 73927743 synonymous variant G/T snv 6.1E-02 3.7E-02 0.020 1.000 2 2013 2019
dbSNP: rs1466963971
rs1466963971
APOE
2 0.925 0.120 19 44908640 missense variant T/G snv 4.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs267606664
rs267606664
APOE
5 0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06 0.010 1.000 1 2013 2013
dbSNP: rs761230732
rs761230732
MTHFR
1 1.000 0.040 1 11801211 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs16958445
rs16958445
TBC1D21
1 1.000 0.040 15 73884216 missense variant G/A snv 3.2E-02 1.2E-02 0.810 1.000 2 2014 2019
dbSNP: rs893818
rs893818
LOXL1
1 1.000 0.040 15 73936854 intron variant G/A snv 0.29 0.810 1.000 2 2014 2019
dbSNP: rs10519015
rs10519015 		1 1.000 0.040 15 73833614 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs10851869
rs10851869
PML
1 1.000 0.040 15 74038742 intron variant T/C snv 0.45 0.700 1.000 1 2014 2014