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: rs1064793703
rs1064793703
CBS
3 0.925 0.160 21 43062344 missense variant GG/AA mnv 0.010 1.000 1 2019 2019
dbSNP: rs775351239
rs775351239
CBS
2 0.925 0.160 21 43065250 frameshift variant A/- del 4.0E-06 1.7E-05 0.700 1.000 2 2010 2011
dbSNP: rs1555871095
rs1555871095
CBS
1 1.000 0.160 21 43056810 frameshift variant C/- del 0.700 1.000 1 2002 2002
dbSNP: rs779250698
rs779250698
CBS
1 1.000 0.160 21 43072166 frameshift variant C/- del 8.2E-06 0.700 1.000 1 2001 2001
dbSNP: rs1555872787
rs1555872787
CBS
1 1.000 0.160 21 43059218 splice donor variant GGTCTTACCAGGG/- del 0.700 0
dbSNP: rs767036273
rs767036273
CBS
1 1.000 0.160 21 43065680 frameshift variant A/- del 0.700 0
dbSNP: rs794727083
rs794727083
CBS
1 1.000 0.160 21 43059231 frameshift variant C/- del 0.700 0
dbSNP: rs748695461
rs748695461
CBS
1 1.000 0.160 21 43072175 frameshift variant G/-;GG delins 0.700 1.000 4 1999 2015
dbSNP: rs786204466
rs786204466
CBS
1 1.000 0.160 21 43053970 frameshift variant C/- delins 0.700 1.000 3 2003 2011
dbSNP: rs794727835
rs794727835
CBS
2 0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 0.700 1.000 3 1999 2014
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.030 1.000 3 2007 2019
dbSNP: rs1555869934
rs1555869934
CBS
1 1.000 0.160 21 43053932 frameshift variant TG/- delins 0.700 1.000 2 2014 2014
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: rs764160782
rs764160782
CBS
2 0.925 0.160 21 43065279 intron variant AAAGAGAG/- delins 1.4E-04; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057516552
rs1057516552
CBS
1 1.000 0.160 21 43072158 frameshift variant CCCCACTTCTGCCTGGGGG/- delins 0.700 0
dbSNP: rs1057517083
rs1057517083
CBS
1 1.000 0.160 21 43066292 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1057517435
rs1057517435
CBS
1 1.000 0.160 21 43065231 frameshift variant GG/CACC delins 0.700 0
dbSNP: rs1555871188
rs1555871188
CBS
1 1.000 0.160 21 43056856 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555873925
rs1555873925
CBS
1 1.000 0.160 21 43062338 frameshift variant ATGC/- delins 0.700 0
dbSNP: rs1555875325
rs1555875325
CBS
1 1.000 0.160 21 43066290 frameshift variant GT/C delins 0.700 0
dbSNP: rs1555876784
rs1555876784
CBS
1 1.000 0.160 21 43072029 frameshift variant CAGGTGCACCTGC/- delins 0.700 0
dbSNP: rs1568932440
rs1568932440
CBS
1 1.000 0.160 21 43065428 splice donor variant -/CAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTC delins 0.700 0
dbSNP: rs755625628
rs755625628
CBS
1 1.000 0.160 21 43066319 frameshift variant -/CGCA delins 4.0E-06 0.700 0
dbSNP: rs766453711
rs766453711
CBS
2 0.925 0.160 21 43063990 splice acceptor variant C/- delins 4.1E-06 0.700 0
dbSNP: rs797044607
rs797044607
PKHD1
1 1.000 0.160 6 52024787 frameshift variant C/- delins 0.700 0