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: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2014 2014
dbSNP: rs397507548
rs397507548
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2003 2003
dbSNP: rs566794487
rs566794487
1 12 106997986 missense variant A/C snv 3.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs63750416
rs63750416
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2013 2019
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 2002 2008
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs1170695
rs1170695
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs202151337
rs202151337
4 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs206936
rs206936
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2015 2015
dbSNP: rs539815495
rs539815495
1 6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs5742912
rs5742912
3 0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2015 2015
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs397509345
rs397509345
5 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2003 2003
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs606231193
rs606231193
6 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0