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: rs1203798584
rs1203798584
1 11 72221671 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs748917911
rs748917911
1 8 48920164 missense variant G/T snv 4.8E-05 4.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs371399726
rs371399726
1 11 72196080 missense variant C/T snv 4.0E-05 5.6E-05 0.020 1.000 2 1999 2000
dbSNP: rs1370179177
rs1370179177
GPI
1 19 34378944 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
dbSNP: rs1339039642
rs1339039642
2 6 150905744 missense variant C/T snv 1.4E-05 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 0.020 1.000 2 2001 2003
dbSNP: rs1141321
rs1141321
1 6 49444720 missense variant C/G;T snv 0.32 0.010 < 0.001 1 2003 2003
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: rs2229384
rs2229384
1 6 49457808 synonymous variant C/T snv 0.56 0.59 0.010 < 0.001 1 2003 2003
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 2003 2003
dbSNP: rs651646
rs651646
1 11 72218482 intron variant T/A snv 0.52 0.010 < 0.001 1 2003 2003
dbSNP: rs751839046
rs751839046
MTR
1 1 236859890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs8589
rs8589
1 6 49435569 missense variant T/C snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2004 2004
dbSNP: rs1831992
rs1831992
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: rs1532268
rs1532268
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2005 2005
dbSNP: rs162036
rs162036
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2005 2005
dbSNP: rs2298526
rs2298526
1 11 112981742 intron variant T/C snv 0.45 0.010 1.000 1 2005 2005
dbSNP: rs4816
rs4816
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2006 2006
dbSNP: rs751421713
rs751421713
1 6 151013801 missense variant A/G snv 8.0E-06 0.020 1.000 2 2006 2009
dbSNP: rs3832406
rs3832406
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: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.030 1.000 3 2003 2010
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.020 1.000 2 2004 2010
dbSNP: rs1212671656
rs1212671656
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010