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: rs2011425
rs2011425
1 1.000 0.040 2 233718962 missense variant T/A;G snv 4.0E-05; 0.11 0.030 1.000 3 2011 2018
dbSNP: rs751514645
rs751514645
1 1.000 0.040 2 166036257 missense variant C/T snv 4.0E-06 2.1E-05 0.020 1.000 2 2009 2017
dbSNP: rs10030601
rs10030601
1 1.000 0.040 4 149804060 intron variant T/C snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs10234411
rs10234411
1 1.000 0.040 7 87535576 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1109771
rs1109771
1 1.000 0.040 6 32219828 intron variant A/G snv 0.57 0.54 0.010 1.000 1 2017 2017
dbSNP: rs111577701
rs111577701
1 1.000 0.040 3 168143620 intergenic variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs111908689
rs111908689
1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11214136
rs11214136
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs12204701
rs12204701
1 1.000 0.040 6 4644367 regulatory region variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12483428
rs12483428
1 1.000 0.040 21 25561470 upstream gene variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs13026414
rs13026414
1 1.000 0.040 2 57706920 intergenic variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs1319484809
rs1319484809
1 1.000 0.040 12 51807224 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1373040226
rs1373040226
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019
dbSNP: rs1373411103
rs1373411103
1 1.000 0.040 10 95384282 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1394074
rs1394074
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1443492116
rs1443492116
1 1.000 0.040 X 48911564 missense variant G/T snv 1.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs1470522542
rs1470522542
1 1.000 0.040 7 103989335 missense variant G/A;C snv 5.0E-06; 5.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1479913332
rs1479913332
1 1.000 0.040 2 166073566 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs15524
rs15524
1 1.000 0.040 7 99648291 3 prime UTR variant A/G snv 0.17 0.25 0.010 1.000 1 2015 2015
dbSNP: rs199681253
rs199681253
1 1.000 0.040 10 76949279 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2229944
rs2229944
1 1.000 0.040 5 161294312 synonymous variant G/A snv 0.11 0.11 0.010 1.000 1 2013 2013
dbSNP: rs2278637
rs2278637
1 1.000 0.040 17 8158784 intron variant G/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs267608665
rs267608665
1 1.000 0.040 X 18650520 stop gained C/A;T snv 5.5E-06; 1.1E-05 0.010 1.000 1 2010 2010
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: rs28498976
rs28498976
1 1.000 0.040 4 31149735 downstream gene variant G/A snv 0.44 0.700 1.000 1 2014 2014