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: 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: 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: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2002 2002
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: rs11569688
rs11569688
NNMT
1 1.000 0.080 11 114312721 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
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: 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: rs1479488159
rs1479488159
ISYNA1
1 1.000 0.080 19 18435586 synonymous variant G/A snv 4.1E-06 7.0E-06 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: 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: 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