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: rs1020608187
rs1020608187
SDS
1 1.000 0.120 12 113398843 missense variant C/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs10417924
rs10417924
TGFB1
1 1.000 0.120 19 41327262 intron variant T/C snv 0.86 0.010 1.000 1 2009 2009
dbSNP: rs1121404
rs1121404
WWOX
1 1.000 0.120 16 79055972 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11868708
rs11868708
SHMT1 ; MIR6778
1 1.000 0.120 17 18341299 non coding transcript exon variant T/A;C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1360756
rs1360756
EPB41L2 ; SMLR1
1 1.000 0.120 6 130828276 intron variant C/T snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs17015014
rs17015014 		1 1.000 0.120 4 141807619 regulatory region variant G/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs1804742
rs1804742
MTR
1 1.000 0.120 1 236899328 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs199737785
rs199737785
KIDINS220
1 1.000 0.120 2 8778656 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2273027
rs2273027
SHMT1
1 1.000 0.120 17 18347213 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs2282369
rs2282369
MTR
1 1.000 0.120 1 236891499 intron variant A/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2811709
rs2811709
CDKN2A
1 1.000 0.120 9 21980152 intron variant A/G snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs2853542
rs2853542
TYMS ; TYMSOS
1 1.000 0.120 18 657685 5 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3213619
rs3213619
ABCB1
1 1.000 0.120 7 87600877 5 prime UTR variant A/G snv 5.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs35964658
rs35964658 		1 1.000 0.120 4 141758435 intergenic variant A/G snv 8.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs3776932
rs3776932
MAN2A1
1 1.000 0.120 5 109850287 intron variant T/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs4813720
rs4813720
RASSF2
1 1.000 0.120 20 4816763 intron variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs6140264
rs6140264 		1 1.000 0.120 20 7395707 intergenic variant G/A snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs6531666
rs6531666
TLR1 ; TLR6
1 1.000 0.120 4 38830547 intron variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs761542345
rs761542345
PLK1
1 1.000 0.120 16 23684056 missense variant A/C snv 6.0E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs765047496
rs765047496
PLK1
1 1.000 0.120 16 23684058 missense variant C/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs9388856
rs9388856
EPB41L2 ; SMLR1
1 1.000 0.120 6 130827723 intron variant A/T snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs9901160
rs9901160 		1 1.000 0.120 17 18371829 TF binding site variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12721593
rs12721593
NBN
1 1.000 0.120 8 89981417 missense variant G/A snv 5.8E-04 1.2E-04 0.700 0
dbSNP: rs1076991
rs1076991
MTHFD1
2 0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs10821938
rs10821938
ARID5B
2 0.925 0.120 10 61965014 intron variant A/C snv 0.56 0.010 1.000 1 2010 2010