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: 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: rs763679435
rs763679435
TSHR ; LOC101928462
4 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
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: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs145687528
rs145687528
PBX3
1 9 125915818 missense variant C/T snv 7.2E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs2844660
rs2844660 		1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs66678247
rs66678247
LOC107986115
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs75661265
rs75661265 		1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
LRP1B
1 2 141204588 intron variant G/T snv 0.12 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: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1176869
rs1176869
LOC105370467
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 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: rs56409046
rs56409046 		1 6 9320073 intergenic variant C/T snv 0.27 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: rs4808863
rs4808863
GDF1 ; CERS1
5 0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2015 2015
dbSNP: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2017 2017
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: rs7941395
rs7941395 		1 11 67579946 upstream gene variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2009 2017
dbSNP: rs11752813
rs11752813
GNMT ; CNPY3-GNMT
1 6 42960279 upstream gene variant C/G snv 0.41 0.010 1.000 1 2017 2017