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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 0.500 2 1996 2000
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: rs121964968
rs121964968
CBS
1 1.000 0.160 21 43053920 missense variant A/G snv 0.700 1.000 21 1994 2014
dbSNP: rs141502207
rs141502207
CBS
1 1.000 0.160 21 43063045 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 21 1994 2014
dbSNP: rs1555872506
rs1555872506
CBS
1 1.000 0.160 21 43058891 missense variant G/T snv 0.700 1.000 21 1994 2014
dbSNP: rs1555874803
rs1555874803
CBS
1 1.000 0.160 21 43065256 missense variant T/C snv 0.700 1.000 21 1994 2014
dbSNP: rs1555875010
rs1555875010
CBS
1 1.000 0.160 21 43065514 missense variant A/G snv 0.700 1.000 21 1994 2014
dbSNP: rs1555875351
rs1555875351
CBS
1 1.000 0.160 21 43066301 missense variant C/G snv 0.700 1.000 21 1994 2014
dbSNP: rs1170128038
rs1170128038
CBS
1 1.000 0.160 21 43060460 missense variant C/T snv 4.0E-06 0.700 1.000 20 1994 2014
dbSNP: rs121964965
rs121964965
CBS
2 0.925 0.160 21 43066279 missense variant C/T snv 2.8E-05 0.700 1.000 20 1994 2014
dbSNP: rs121964967
rs121964967
CBS
2 0.925 0.160 21 43059299 missense variant T/C snv 0.700 1.000 20 1994 2014
dbSNP: rs121964970
rs121964970
CBS
2 0.925 0.160 21 43065645 missense variant C/A;T snv 5.4E-06; 1.1E-05 0.700 1.000 20 1994 2014
dbSNP: rs1429138569
rs1429138569
CBS
1 1.000 0.160 21 43065684 missense variant C/T snv 6.0E-06 0.700 1.000 20 1994 2014
dbSNP: rs1464223176
rs1464223176
CBS
1 1.000 0.160 21 43065255 missense variant G/C snv 8.0E-06 0.700 1.000 20 1994 2014
dbSNP: rs370167302
rs370167302
CBS
1 1.000 0.160 21 43066265 missense variant G/A;C snv 3.2E-05 0.700 1.000 20 1994 2014
dbSNP: rs373782713
rs373782713
CBS
1 1.000 0.160 21 43066243 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 20 1994 2014
dbSNP: rs555959266
rs555959266
CBS
1 1.000 0.160 21 43072022 missense variant G/A snv 8.0E-06 0.700 1.000 20 1994 2014
dbSNP: rs755106884
rs755106884
CBS
1 1.000 0.160 21 43056856 missense variant G/A snv 3.7E-05 0.700 1.000 20 1994 2014
dbSNP: rs757920190
rs757920190
CBS
1 1.000 0.160 21 43060477 missense variant C/T snv 1.2E-05 0.700 1.000 20 1994 2014
dbSNP: rs758712880
rs758712880
CBS
1 1.000 0.160 21 43065454 missense variant G/A snv 1.6E-05 0.700 1.000 20 1994 2014
dbSNP: rs760912339
rs760912339
CBS
1 1.000 0.160 21 43063038 missense variant G/A;T snv 4.1E-06 0.700 1.000 20 1994 2014
dbSNP: rs761647392
rs761647392
CBS
1 1.000 0.160 21 43065268 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 20 1994 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 20 1994 2014