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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.795 39 1993 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2004 2018
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.090 0.667 9 1994 2015
dbSNP: rs12140311
rs12140311
CLCNKB
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs1126742
rs1126742
CYP4A11
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 1.000 2 2012 2018
dbSNP: rs1021737
rs1021737
CTH
2 0.925 0.120 1 70439117 missense variant G/T snv 0.28 0.24 0.010 < 0.001 1 2008 2008
dbSNP: rs1047047
rs1047047
GUCA2B
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs10803414
rs10803414
CLCNKB
2 1.000 0.040 1 16054087 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
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 2014 2014
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs11559300
rs11559300
GNG5 ; SPATA1
1 1.000 0.040 1 84506076 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11572325
rs11572325
CYP2J2
3 0.925 0.080 1 59896030 intron variant A/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12731181
rs12731181
PTGFR
1 1.000 0.040 1 78536904 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs13093
rs13093
GNG5 ; SPATA1
1 1.000 0.040 1 84506286 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13306560
rs13306560
CLCN6 ; MTHFR
3 1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1454007558
rs1454007558
GJA4 ; SMIM12 ; LOC105378642
1 1.000 0.040 1 34795038 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs16849802
rs16849802
RGS5
2 1.000 0.040 1 163145396 3 prime UTR variant G/A snv 4.4E-03 0.010 1.000 1 2015 2015
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 2011 2011
dbSNP: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs199705300
rs199705300
GNG5
1 1.000 0.040 1 84501910 missense variant G/T snv 6.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs2228099
rs2228099
ARNT
1 1.000 0.040 1 150836413 synonymous variant C/G snv 0.41 0.42 0.010 1.000 1 2017 2017
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 1.000 1 2016 2016