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: rs1001761
rs1001761
TYMS
2 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 0.010 1.000 1 2009 2009
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
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: rs16939660
rs16939660
ALDH1A2
2 0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 0.010 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 2009 2009
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: 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: 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: 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: 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: 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: rs9332
rs9332
MTRR
2 0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 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: 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: 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: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2013 2013
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