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: 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 2014 2015
dbSNP: rs538874513
rs538874513
TP73
6 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 0.020 1.000 2 1999 2001
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs11247957
rs11247957
LIN28A
3 0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs11579261
rs11579261 		1 1.000 0.040 1 143544453 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs11587304
rs11587304 		1 1.000 0.040 1 143653074 upstream gene variant A/C snv 0.83 0.700 1.000 1 2009 2009
dbSNP: rs1301478248
rs1301478248
CASP9
3 0.882 0.080 1 15495395 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs137974312
rs137974312
CAMTA1
1 1.000 0.040 1 7738307 missense variant C/T snv 2.1E-03 1.3E-03 0.010 1.000 1 2007 2007
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: rs17161949
rs17161949 		1 1.000 0.040 1 143550435 intron variant T/C snv 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs17162074
rs17162074
LOC112268273
1 1.000 0.040 1 143569860 intron variant G/A snv 6.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs17162082
rs17162082 		1 1.000 0.040 1 143545399 intron variant C/T snv 5.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2147578
rs2147578
LAMC1 ; LAMC1-AS1
4 0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2273267
rs2273267
NRAS ; CSDE1
4 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs28938172
rs28938172
PARK7
7 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs34787247
rs34787247
LIN28A
4 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs3811464
rs3811464
LIN28A
4 0.851 0.160 1 26410652 upstream gene variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs3853524
rs3853524 		1 1.000 0.040 1 143665797 intergenic variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014