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 0.760 0.933 15 1995 2019
dbSNP: rs773734233
rs773734233
CBS
2 0.925 0.160 21 43065239 missense variant C/T snv 1.2E-05 1.0E-04 0.710 1.000 4 1999 2013
dbSNP: rs121964973
rs121964973
CBS
4 0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05 0.710 1.000 3 1999 2018
dbSNP: rs121964964
rs121964964
CBS
4 0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 0.700 1.000 6 1993 2012
dbSNP: rs771298943
rs771298943
CBS
3 0.882 0.160 21 43062311 missense variant C/A;T snv 0.700 1.000 5 2002 2016
dbSNP: rs28934891
rs28934891
CBS
4 0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 0.700 1.000 4 1996 2014
dbSNP: rs762065361
rs762065361
CBS
2 0.925 0.160 21 43065621 stop gained C/A;T snv 5.3E-06 0.700 1.000 4 1997 2012
dbSNP: rs781567152
rs781567152
CBS
2 0.925 0.160 21 43062391 missense variant A/G snv 1.6E-05 0.700 1.000 4 1997 2012
dbSNP: rs121964962
rs121964962
CBS
5 0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 0.700 1.000 3 2002 2010
dbSNP: rs745704046
rs745704046
CBS
1 1.000 0.160 21 43065690 missense variant C/T snv 0.700 1.000 3 2010 2012
dbSNP: rs758236584
rs758236584
CBS
2 0.925 0.160 21 43063958 missense variant G/A snv 3.6E-05 0.700 1.000 3 1995 2012
dbSNP: rs1347651454
rs1347651454
CBS
3 0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06 0.700 1.000 2 1999 2012
dbSNP: rs751464024
rs751464024
CBS
2 0.925 0.160 21 43071984 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 2 2015 2018
dbSNP: rs764160782
rs764160782
CBS
2 0.925 0.160 21 43065279 intron variant AAAGAGAG/- delins 1.4E-04; 4.0E-06 0.700 1.000 2 2011 2018
dbSNP: rs778220779
rs778220779
CBS
3 0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05 0.700 1.000 2 2002 2012
dbSNP: rs1361324844
rs1361324844
CBS
3 0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs375846341
rs375846341
CBS
3 0.882 0.160 21 43058970 splice acceptor variant T/G snv 7.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.040 0.750 4 2010 2019
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.020 1.000 2 2002 2008
dbSNP: rs1064793703
rs1064793703
CBS
3 0.925 0.160 21 43062344 missense variant GG/AA mnv 0.010 1.000 1 2019 2019
dbSNP: rs117687681
rs117687681
CBS
2 0.925 0.160 21 43060481 missense variant G/A snv 3.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs121964969
rs121964969
CBS
3 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs398123151
rs398123151
CBS
4 0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs562530775
rs562530775
CBS
1 1.000 0.160 21 43063020 missense variant G/A;C snv 2.4E-04; 7.2E-05 0.010 1.000 1 2018 2018