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: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.850 0.974 39 1984 2019
dbSNP: rs121964962
rs121964962
CBS
5 0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 0.810 1.000 33 1993 2018
dbSNP: rs121964969
rs121964969
CBS
3 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.810 1.000 31 1994 2017
dbSNP: rs760214620
rs760214620
CBS
1 1.000 0.160 21 43066348 missense variant C/T snv 4.0E-06 0.810 1.000 29 1994 2014
dbSNP: rs398123151
rs398123151
CBS
4 0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05 0.810 1.000 12 1994 2019
dbSNP: rs28934891
rs28934891
CBS
4 0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 0.800 1.000 35 1994 2015
dbSNP: rs786204608
rs786204608
CBS
1 1.000 0.160 21 43068592 missense variant G/C snv 4.0E-06 0.800 1.000 31 1994 2014
dbSNP: rs121964964
rs121964964
CBS
4 0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 0.800 1.000 29 1993 2014
dbSNP: rs121964972
rs121964972
CBS
5 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.800 1.000 28 1994 2014
dbSNP: rs781444670
rs781444670
CBS
2 0.925 0.160 21 43066320 missense variant C/T snv 8.0E-06 0.800 1.000 28 1994 2015
dbSNP: rs786204609
rs786204609
CBS
1 1.000 0.160 21 43068519 missense variant C/G snv 4.0E-06 0.800 1.000 28 1994 2014
dbSNP: rs786204757
rs786204757
CBS
2 0.925 0.160 21 43068523 missense variant A/G snv 0.800 1.000 28 1994 2014
dbSNP: rs121964966
rs121964966
CBS
2 0.925 0.160 21 43066264 missense variant C/G;T snv 6.4E-05; 2.8E-05 0.800 1.000 26 1994 2014
dbSNP: rs121964973
rs121964973
CBS
4 0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05 0.800 1.000 26 1994 2014
dbSNP: rs760417941
rs760417941
CBS
2 0.925 0.160 21 43062343 missense variant C/A;T snv 1.2E-05 0.800 1.000 26 1994 2015
dbSNP: rs775992753
rs775992753
CBS
1 1.000 0.160 21 43066333 missense variant G/A snv 1.6E-05 0.800 1.000 26 1994 2014
dbSNP: rs372010465
rs372010465
CBS
2 0.925 0.160 21 43060475 missense variant C/G;T snv 8.1E-06 0.800 1.000 25 1994 2014
dbSNP: rs763835246
rs763835246
CBS
1 1.000 0.160 21 43065263 missense variant C/G;T snv 8.0E-06 0.800 1.000 25 1994 2014
dbSNP: rs770095972
rs770095972
CBS
1 1.000 0.160 21 43066332 missense variant C/A;T snv 2.4E-05 0.800 1.000 25 1994 2014
dbSNP: rs781567152
rs781567152
CBS
2 0.925 0.160 21 43062391 missense variant A/G snv 1.6E-05 0.800 1.000 25 1994 2014
dbSNP: rs763036586
rs763036586
CBS
1 1.000 0.160 21 43060450 missense variant C/T snv 8.0E-06 0.800 1.000 24 1994 2014
dbSNP: rs778220779
rs778220779
CBS
3 0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05 0.800 1.000 24 1994 2018
dbSNP: rs121964963
rs121964963
CBS
2 0.925 0.160 21 43066260 missense variant G/A snv 4.0E-06 0.800 1.000 21 1994 2014
dbSNP: rs769080151
rs769080151
CBS
1 1.000 0.160 21 43060451 missense variant G/A snv 8.0E-06 0.800 1.000 21 1994 2014
dbSNP: rs148865119
rs148865119
CBS
2 0.925 0.160 21 43072048 missense variant G/A;C snv 1.5E-04; 4.0E-06 0.800 1.000 9 1998 2015