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: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019
dbSNP: rs563649
rs563649
2 1.000 0.040 6 154086832 5 prime UTR variant C/T snv 9.8E-02 0.020 1.000 2 2009 2017
dbSNP: rs748653984
rs748653984
2 1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs778056858
rs778056858
2 1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs10483639
rs10483639
3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs104894379
rs104894379
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1050565
rs1050565
2 1.000 0.080 17 30249058 missense variant T/C snv 0.30 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs1288779666
rs1288779666
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs13093031
rs13093031
2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs13361160
rs13361160
2 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs16868943
rs16868943
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1972597
rs1972597
2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs2070995
rs2070995
2 1.000 0.040 21 37714662 synonymous variant T/C snv 0.80 0.85 0.010 1.000 1 2019 2019
dbSNP: rs2233409
rs2233409
3 1.000 0.080 14 35405064 upstream gene variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2562456
rs2562456
2 1.000 0.040 19 21483408 non coding transcript exon variant C/T snv 0.77 0.800 1.000 1 2009 2009
dbSNP: rs3862188
rs3862188
2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs6334
rs6334
3 1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs6801957
rs6801957
7 1.000 0.080 3 38725824 intron variant T/C snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs6961071
rs6961071
2 1.000 0.120 7 156182007 downstream gene variant A/G;T snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs749415280
rs749415280
2 1.000 0.120 4 69096638 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs76060075
rs76060075
2 1.000 0.120 22 42129185 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs773030005
rs773030005
2 1.000 0.040 4 69107204 synonymous variant A/C;G snv 4.0E-06; 6.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs806378
rs806378
2 1.000 0.040 6 88149832 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013