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: 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: 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: 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: 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: 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: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2018 2018
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
dbSNP: rs11634339
rs11634339
LOXL1-AS1
1 1.000 0.040 15 73913466 intron variant T/C snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs11637249
rs11637249 		1 1.000 0.040 15 73855637 intergenic variant T/C snv 0.61 0.700 1.000 1 2014 2014
dbSNP: rs12441138
rs12441138
LOXL1
1 1.000 0.040 15 73951556 intron variant G/A snv 5.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs12594472
rs12594472
LOXL1
1 1.000 0.040 15 73934799 intron variant A/T snv 8.4E-02 0.700 1.000 1 2014 2014
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: 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: rs1452388
rs1452388 		1 1.000 0.040 15 73846737 intergenic variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs1452389
rs1452389 		1 1.000 0.040 15 73846481 intergenic variant T/C snv 0.61 0.700 1.000 1 2014 2014
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: rs1471439
rs1471439 		1 1.000 0.040 15 73814472 intergenic variant T/A snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1550435
rs1550435
PML
1 1.000 0.040 15 74039044 intron variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs1550437
rs1550437
LOXL1 ; LOXL1-AS1
1 1.000 0.040 15 73928957 intron variant C/T snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs16958382
rs16958382 		1 1.000 0.040 15 73847349 intergenic variant A/G snv 5.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs16958390
rs16958390 		1 1.000 0.040 15 73860915 intergenic variant T/C snv 6.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs16958415
rs16958415
TBC1D21
1 1.000 0.040 15 73875834 intron variant G/A snv 6.4E-02 0.700 1.000 1 2014 2014