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: rs10424978
rs10424978
4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10425559
rs10425559
7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs1050529
rs1050529
3 0.882 0.040 6 31356838 missense variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs10896064
rs10896064
3 0.882 0.040 11 65873562 5 prime UTR variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs109077
rs109077
3 0.882 0.040 5 149817119 intron variant T/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10995255
rs10995255
3 0.882 0.040 10 62642673 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11719821
rs11719821
LPP
3 0.882 0.040 3 188370530 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs11741260
rs11741260
3 0.882 0.040 5 44411963 intron variant G/A;C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081
4 0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs11993814
rs11993814
3 0.882 0.040 8 80477556 intron variant C/T snv 0.39 0.700 1.000 1 2016 2016
dbSNP: rs12070203
rs12070203
3 0.882 0.040 1 228858641 downstream gene variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12205199
rs12205199
3 0.882 0.040 6 150032420 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12466910
rs12466910
3 0.882 0.040 2 11386590 downstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1246946
rs1246946
4 0.851 0.040 6 4979722 downstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs125124
rs125124
3 0.882 0.040 7 130899925 intron variant C/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs13014235
rs13014235
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.700 1.000 1 2015 2015
dbSNP: rs13261635
rs13261635
3 0.882 0.040 8 119070732 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs138501911
rs138501911
3 0.882 0.040 10 8920514 intergenic variant C/T snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs141115006
rs141115006
3 0.882 0.040 8 99992792 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs16891982
rs16891982
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs16917546
rs16917546
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs17137933
rs17137933
3 0.882 0.040 7 17593140 intergenic variant C/T snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1765871
rs1765871
3 0.882 0.040 13 112879337 intron variant C/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1870940
rs1870940
4 0.851 0.080 1 155011887 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019