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: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.800 1.000 4 2009 2018
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2010 2014
dbSNP: rs12134663
rs12134663
1 1 11778589 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs12780845
rs12780845
1 10 17181245 intron variant A/G snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs12921383
rs12921383
1 16 89793345 intron variant T/C snv 7.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs154657
rs154657
1 16 89641688 downstream gene variant G/A snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs1801222
rs1801222
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.800 1.000 1 2013 2013
dbSNP: rs2251468
rs2251468
2 12 120967323 intron variant C/A;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2275565
rs2275565
MTR
1 1 236885376 intron variant G/T snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs234709
rs234709
CBS
7 0.827 0.200 21 43066854 intron variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs2851391
rs2851391
CBS
2 1.000 0.080 21 43067294 intron variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs42648
rs42648
1 7 90348446 intron variant A/G;T snv 0.52 0.800 1.000 1 2013 2013
dbSNP: rs4660306
rs4660306
1 1 45513003 3 prime UTR variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs548987
rs548987
5 0.882 0.200 6 25869143 intron variant G/C snv 0.20 0.800 1.000 1 2013 2013
dbSNP: rs6586282
rs6586282
CBS
5 0.882 0.080 21 43058387 intron variant C/T snv 0.800 1.000 1 2009 2009
dbSNP: rs7130284
rs7130284
1 11 89415204 intron variant C/T snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs838133
rs838133
3 19 48756272 synonymous variant A/G;T snv 0.67; 4.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs9369898
rs9369898
1 6 49414480 intergenic variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs957140
rs957140
1 11 89468459 intron variant G/A snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs7422339
rs7422339
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2013
dbSNP: rs10934753
rs10934753
1 3 126187336 intron variant G/A snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs10986018
rs10986018
2 9 98361054 intron variant T/C snv 7.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs12085006
rs12085006
2 1 11898666 intergenic variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs164746
rs164746
1 16 89642611 downstream gene variant G/A snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs17354370
rs17354370
1 7 19560244 intron variant A/G snv 0.29 0.700 1.000 1 2018 2018