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 1.000 13 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2009 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2474937
rs2474937 		6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs57920071
rs57920071
LMNA
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs11895588
rs11895588
LRP1B
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs66678247
rs66678247
LOC107986115
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs146189703
rs146189703
LOC105377552
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs1531070
rs1531070
MAML3
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2006 2017
dbSNP: rs397516908
rs397516908
NKX2-5
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs145536528
rs145536528
SLU7
3 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2011 2011
dbSNP: rs492842
rs492842
BHMT ; DMGDH
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852
BHMT ; DMGDH
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs876657934
rs876657934
NKX2-5
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs1057518422
rs1057518422
TAB2
7 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs11752813
rs11752813
GNMT ; CNPY3-GNMT
1 6 42960279 upstream gene variant C/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2844660
rs2844660 		1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs56409046
rs56409046 		1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008