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: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs35161626
rs35161626
1 1.000 0.040 3 23470822 intron variant A/- del 0.64 0.700 1.000 1 2016 2016
dbSNP: rs10155912
rs10155912
1 1.000 0.040 7 140058921 intron variant A/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs13211318
rs13211318
5 0.925 0.040 6 32134903 upstream gene variant A/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1635168
rs1635168
3 1.000 0.040 15 28290120 intron variant A/C snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs1847134
rs1847134
3 0.925 0.080 11 89272085 intron variant A/C snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs2267641
rs2267641
2 0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18 0.010 1.000 1 2010 2010
dbSNP: rs9261817
rs9261817
1 1.000 0.040 6 30410824 upstream gene variant A/C snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs2456973
rs2456973
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs3130424
rs3130424
5 0.925 0.040 6 31250462 intergenic variant A/C;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs8083511
rs8083511
1 1.000 0.040 18 62361422 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs59374417
rs59374417
2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs3094061
rs3094061
2 0.925 0.160 6 30353412 downstream gene variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3130455
rs3130455
1 1.000 0.040 6 31158201 5 prime UTR variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs12206499
rs12206499
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 2 2012 2016
dbSNP: rs10768122
rs10768122
1 1.000 0.040 11 35259305 3 prime UTR variant A/G snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs117744081
rs117744081
4 0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs12206131
rs12206131
1 1.000 0.040 6 31446233 non coding transcript exon variant A/G snv 1.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs13204672
rs13204672
1 1.000 0.040 6 32615019 intergenic variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs1408944
rs1408944
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014