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: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.100 1.000 35 2006 2020
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.100 1.000 11 2009 2020
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.740 1.000 5 2008 2020
dbSNP: rs28938469
rs28938469
3 0.925 0.160 11 17395659 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs36217263
rs36217263
KL
4 1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 0.010 1.000 1 2020 2020
dbSNP: rs505151
rs505151
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2020 2020
dbSNP: rs756823374
rs756823374
2 1.000 0.040 11 17463515 missense variant G/A snv 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs8133052
rs8133052
6 0.925 0.120 21 36135203 missense variant G/A;C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.813 32 2000 2019
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.100 0.882 17 2003 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.800 1.000 13 2010 2019
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.050 0.800 5 2014 2019
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.050 1.000 5 2008 2019
dbSNP: rs137852785
rs137852785
3 0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04 0.030 1.000 3 2000 2019
dbSNP: rs2233580
rs2233580
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.030 1.000 3 2007 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 0.667 3 2014 2019
dbSNP: rs10946398
rs10946398
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.020 1.000 2 2011 2019
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 1.000 2 2013 2019
dbSNP: rs137853336
rs137853336
5 0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.020 1.000 2 2016 2019
dbSNP: rs201264306
rs201264306
3 0.925 0.080 11 17387566 missense variant G/A snv 2.4E-05 7.7E-05 0.020 1.000 2 2004 2019
dbSNP: rs753285226
rs753285226
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs75493593
rs75493593
3 0.925 0.080 17 7041768 missense variant G/C;T snv 8.0E-06; 5.4E-02 0.020 1.000 2 2016 2019
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.020 0.500 2 2016 2019
dbSNP: rs10084572
rs10084572
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019