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: rs1555144459
rs1555144459
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555740394
rs1555740394
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs34808376
rs34808376
2 0.925 0.040 7 155456016 intron variant -/GC delins 0.010 1.000 1 2010 2010
dbSNP: rs3832300
rs3832300
2 1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs2217262
rs2217262
1 1.000 0.040 7 112156322 intron variant A/C snv 7.2E-02 0.020 1.000 2 2010 2014
dbSNP: rs10185592
rs10185592
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs6452305
rs6452305
1 1.000 0.040 5 25924513 intergenic variant A/C snv 0.69 0.700 1.000 1 2009 2009
dbSNP: rs9302952
rs9302952
1 1.000 0.040 17 73068087 non coding transcript exon variant A/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1119032
rs1119032
1 1.000 0.040 5 140902846 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs12690517
rs12690517
1 1.000 0.040 2 181509807 splice region variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs2292305
rs2292305
4 0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16 0.010 1.000 1 2014 2014
dbSNP: rs3797817
rs3797817
FER
1 1.000 0.040 5 108948641 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs876660634
rs876660634
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2005 2005
dbSNP: rs2253031
rs2253031
1 1.000 0.040 7 147934809 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs757511770
rs757511770
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 < 0.001 1 2019 2019