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
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.936 156 1996 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 1.000 13 1999 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 1999 2013
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.030 1.000 3 1999 2012
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 1.000 2 1999 2000
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.762 21 2000 2018
dbSNP: rs61886492
rs61886492
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs749213026
rs749213026
1 1.000 0.080 10 99235705 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs765625943
rs765625943
4 0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06 0.010 1.000 1 2001 2001
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 1.000 3 2002 2017
dbSNP: rs1300260120
rs1300260120
1 1.000 0.080 7 22193435 missense variant G/A snv 0.020 1.000 2 2002 2006
dbSNP: rs769737896
rs769737896
5 0.851 0.080 19 11110759 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs773371778
rs773371778
2 0.925 0.080 16 56972000 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.060 1.000 6 2003 2018
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2003 2007
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.040 1.000 4 2004 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2006 2013
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2019
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.020 0.500 2 2008 2009
dbSNP: rs9001
rs9001
2 0.925 0.080 3 53823890 missense variant T/G snv 0.15 0.17 0.010 1.000 1 2009 2009
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1941404
rs1941404
3 0.882 0.120 11 114298316 non coding transcript exon variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012