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: rs1805134
rs1805134
LEPR
2 0.925 0.160 1 65601426 synonymous variant T/C snv 0.22 0.24 0.010 1.000 1 2011 2011
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: rs2236224
rs2236224
MTHFD1
1 1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33 0.010 1.000 1 2009 2009
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2016 2016
dbSNP: rs2303697
rs2303697
ISYNA1
1 1.000 0.080 19 18435868 synonymous variant T/C snv 0.38 0.47 0.010 1.000 1 2004 2004
dbSNP: rs234713
rs234713
CBS
1 1.000 0.080 21 43067781 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2009 2009
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: rs2797840
rs2797840
SARDH
2 1.000 0.080 9 133671511 intron variant G/A;C snv 0.53; 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs2847149
rs2847149
TYMS
1 1.000 0.080 18 666371 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs2851391
rs2851391
CBS
2 1.000 0.080 21 43067294 intron variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs34181110
rs34181110
MTHFD1
3 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs357564
rs357564
PTCH1
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs3783903
rs3783903
ITPK1
1 1.000 0.080 14 93015978 intron variant T/C snv 0.21 0.010 1.000 1 2014 2014
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: rs4621
rs4621
CFL1 ; SNX32
1 1.000 0.080 11 65856048 synonymous variant G/A snv 0.57 0.52 0.010 1.000 1 2007 2007
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: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2014 2014
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2009 2009
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: 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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
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: 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: 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