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: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.030 1.000 3 2001 2017
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: 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: rs162036
rs162036
MTRR
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2005 2005
dbSNP: rs4839469
rs4839469
VANGL1
1 1 115663802 missense variant G/A;C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1831992
rs1831992
ZIC2
2 1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs34396413
rs34396413
TFAP2A
3 0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2336573
rs2336573
CD320
1 19 8302825 missense variant C/T snv 5.9E-02 0.12 0.010 1.000 1 2010 2010
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: rs9426
rs9426
CD320
1 19 8302274 3 prime UTR variant C/T snv 5.5E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs61886492
rs61886492
FOLH1
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2003 2003
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: rs17857382
rs17857382
MTHFD1 ; ZBTB25
1 14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs76665876
rs76665876
TRIM4
1 7 99892234 missense variant G/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2019 2019
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: rs778976254
rs778976254
DACT1
2 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs374628070
rs374628070
FOLR3
2 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs3832406
rs3832406
MTHFD1L
3 0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs148512517
rs148512517
VANGL1
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs748917911
rs748917911
SNAI2 ; LOC107986942
1 8 48920164 missense variant G/T snv 4.8E-05 4.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs368939818
rs368939818
FOLH1
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs371399726
rs371399726
FOLR1
1 11 72196080 missense variant C/T snv 4.0E-05 5.6E-05 0.020 1.000 2 1999 2000
dbSNP: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
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