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 0.882 68 1997 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.090 0.667 9 1997 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2012 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1051226
rs1051226
TPM3
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10925260
rs10925260
MTR
1 1 236884786 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs11247593
rs11247593
ARID1A
1 1 26725589 intron variant G/A snv 0.30 0.010 1.000 1 2014 2014
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: rs12132032
rs12132032
PRKACB
2 1.000 0.080 1 84100906 intron variant A/G snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs121918219
rs121918219
VANGL1
2 1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1314974864
rs1314974864
VANGL2
1 1 160419339 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2012 2012
dbSNP: rs148512517
rs148512517
VANGL1
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs150198234
rs150198234
MTR
1 1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs34059106
rs34059106
VANGL1
1 1 115684037 missense variant A/C;G snv 4.0E-03; 4.0E-06 1.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs4839469
rs4839469
VANGL1
1 1 115663802 missense variant G/A;C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs573558988
rs573558988
VANGL2
1 1 160420419 missense variant G/A;T snv 8.0E-06 8.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs594631
rs594631
PRKACB ; LOC107985046
1 1 84220882 intron variant A/T snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs751839046
rs751839046
MTR
1 1 236859890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs761123443
rs761123443
VANGL1
2 1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2855658
rs2855658
CYP1B1 ; RMDN2
2 2 38069747 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs3755166
rs3755166
LRP2
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018