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: rs796051881
rs796051881
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553456695
rs1553456695
1 1.000 0.040 2 156329859 frameshift variant -/C delins 0.700 0
dbSNP: rs730882200
rs730882200
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs1373040226
rs1373040226
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019
dbSNP: rs886039798
rs886039798
4 0.925 0.120 11 66529902 frameshift variant -/T delins 0.700 0
dbSNP: rs71547482
rs71547482
1 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs372292910
rs372292910
3 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 0.700 0
dbSNP: rs1105879
rs1105879
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2717068
rs2717068
1 1.000 0.040 2 57867738 intergenic variant A/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs7461897
rs7461897
2 1.000 0.040 8 27037027 intergenic variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs80356617
rs80356617
3 0.882 0.160 11 17387916 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs730882222
rs730882222
3 0.925 0.040 17 6707026 splice donor variant A/C snv 0.700 0
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs2499697
rs2499697
2 0.925 0.040 6 34077141 intron variant A/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2016 2016
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2007 2018
dbSNP: rs2486253
rs2486253
3 0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs635311
rs635311
2 0.925 0.040 2 219637645 missense variant A/C;T snv 0.75; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 1999 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2009 2011
dbSNP: rs3773364
rs3773364
2 0.925 0.040 3 12148468 intron variant A/G snv 0.15 0.030 0.667 3 2010 2015
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2012 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2011 2018