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: rs667555
rs667555
CFL1
1 1.000 0.080 11 65857091 splice donor variant A/C snv 0.54 0.010 1.000 1 2007 2007
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 16 1995 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2003 2009
dbSNP: rs11227332
rs11227332
CFL1 ; SNX32
1 1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14 0.010 1.000 1 2007 2007
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2011 2011
dbSNP: rs147495923
rs147495923
SLC5A11
1 1.000 0.080 16 24906679 missense variant A/G snv 1.2E-03 7.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs162036
rs162036
MTRR
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2009 2009
dbSNP: rs16863657
rs16863657
PAX3 ; CCDC140
1 1.000 0.080 2 222299799 intron variant A/G snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs202676
rs202676
FOLH1
7 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 0.010 1.000 1 2012 2012
dbSNP: rs4646337
rs4646337
NNMT
1 1.000 0.080 11 114312587 3 prime UTR variant A/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs626105
rs626105
BHMT2 ; DMGDH
1 1.000 0.080 5 79074078 intron variant A/G snv 0.72 0.010 1.000 1 2005 2005
dbSNP: rs737865
rs737865
COMT ; TXNRD2
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs7571842
rs7571842
SLC4A5
1 1.000 0.080 2 74233777 intron variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs4552
rs4552
PCMT1
1 1.000 0.080 6 149811183 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs702465
rs702465
BOLA3
1 1.000 0.080 2 74142024 intron variant A/G;T snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs766063498
rs766063498
MTHFD1L
2 0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs939883
rs939883
PCYT1A ; SLC51A
1 1.000 0.080 3 196238244 3 prime UTR variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1369410594
rs1369410594
PTK7
1 1.000 0.080 6 43143543 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs746937239
rs746937239
MTHFR
1 1.000 0.080 1 11801165 synonymous variant C/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 1.000 1 2019 2019
dbSNP: rs61755040
rs61755040
NKX2-8
1 1.000 0.080 14 36581437 missense variant C/G snv 8.7E-03 9.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs10135525
rs10135525
NKX2-8
1 1.000 0.080 14 36581342 missense variant C/T snv 9.1E-04 4.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2009 2009