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: rs997050266
rs997050266
4 0.851 0.120 19 45423352 missense variant T/A;C snv 1.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs9926296
rs9926296
1 1.000 0.040 16 89751681 intron variant A/G snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs9851967
rs9851967
LPP
2 1.000 0.040 3 188369840 intron variant C/T snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs968567
rs968567
7 0.851 0.240 11 61828092 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs9611565
rs9611565
TEF
1 1.000 0.040 22 41371482 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs9501447
rs9501447
1 1.000 0.040 6 30430063 intergenic variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9501336
rs9501336
1 1.000 0.040 6 30459733 downstream gene variant G/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs9461612
rs9461612
1 1.000 0.040 6 30470779 downstream gene variant G/A snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs9295886
rs9295886
1 1.000 0.040 6 30453620 intron variant C/T snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9295873
rs9295873
1 1.000 0.040 6 30446458 upstream gene variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9295871
rs9295871
1 1.000 0.040 6 30443312 intergenic variant T/C snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9295822
rs9295822
1 1.000 0.040 6 29861103 intron variant C/T snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs9271597
rs9271597
3 0.925 0.080 6 32623514 upstream gene variant T/A snv 0.39 0.700 1.000 2 2016 2019
dbSNP: rs9261947
rs9261947
1 1.000 0.040 6 30426851 intergenic variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs9261926
rs9261926
1 1.000 0.040 6 30424629 intergenic variant C/A;T snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs9261923
rs9261923
1 1.000 0.040 6 30424383 intergenic variant G/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9261919
rs9261919
1 1.000 0.040 6 30423946 downstream gene variant G/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9261871
rs9261871
1 1.000 0.040 6 30418117 intron variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9261862
rs9261862
1 1.000 0.040 6 30416961 intron variant C/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9261858
rs9261858
1 1.000 0.040 6 30416540 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs9261846
rs9261846
1 1.000 0.040 6 30414663 upstream gene variant G/C snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9261821
rs9261821
1 1.000 0.040 6 30411297 upstream gene variant T/C snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs9261817
rs9261817
1 1.000 0.040 6 30410824 upstream gene variant A/C snv 0.16 0.700 1.000 1 2010 2010