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: 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: rs1555471098
rs1555471098
CREBBP
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2004 2007
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 1.000 2 2005 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
dbSNP: rs4816
rs4816
PCMT1
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.020 1.000 2 2006 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: 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