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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
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: 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: 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: 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: 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: 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: 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: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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