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: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
4 0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs587780343
rs587780343
GCK
1 7 44145638 missense variant C/A;T snv 0.700 0
dbSNP: rs587780345
rs587780345
GCK ; LOC105375258
5 0.851 0.080 7 44150004 missense variant C/T snv 0.700 0
dbSNP: rs587780346
rs587780346
GCK ; LOC105375258
3 0.925 0.080 7 44149823 missense variant T/G snv 0.700 0
dbSNP: rs587780347
rs587780347
GCK ; LOC105375258
1 7 44147807 missense variant C/T snv 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1470579
rs1470579
IGF2BP2
5 0.925 0.160 3 185811292 intron variant A/C snv 0.46 0.800 1.000 1 2012 2012
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs10946398
rs10946398
CDKAL1
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2328549
rs2328549
CDKAL1
1 6 20718009 intron variant A/T snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6456368
rs6456368
CDKAL1
2 1.000 0.080 6 20659575 intron variant T/C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs7767391
rs7767391
CDKAL1
2 1.000 0.080 6 20725009 intron variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs9348440
rs9348440
CDKAL1
2 1.000 0.080 6 20641105 intron variant C/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs9465871
rs9465871
CDKAL1
4 0.882 0.120 6 20717024 intron variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2009 2009
dbSNP: rs10068521
rs10068521
PRLR
1 5 35230278 5 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs10229583
rs10229583 		2 1.000 0.080 7 127606849 downstream gene variant G/A snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs10245353
rs10245353 		4 7 25818994 intergenic variant C/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs10278590
rs10278590
RARRES2 ; LRRC61
1 7 150338437 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1036483919
rs1036483919
GCK
4 0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2018 2018