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: rs7543472
rs7543472 		1 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 0.020 1.000 2 2012 2016
dbSNP: rs11260867
rs11260867 		1 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs6841698
rs6841698 		4 0.882 0.080 4 38760093 upstream gene variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1303044966
rs1303044966
ABHD12
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs17175798
rs17175798
ANKRD34C-AS1
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.010 < 0.001 1 2011 2011
dbSNP: rs1215603718
rs1215603718
AQP1
3 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs765019311
rs765019311
AVP
2 0.925 0.040 20 3082716 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs867198716
rs867198716
AVP
1 1.000 0.040 20 3082775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs377423839
rs377423839
BFSP2
2 0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs930526408
rs930526408
BFSP2 ; BFSP2-AS1
2 0.925 0.040 3 133472412 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs118203965
rs118203965
CHMP4B
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs118203966
rs118203966
CHMP4B
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs751634469
rs751634469
CHMP4B ; ZNF341-AS1
1 1.000 0.040 20 33811532 missense variant C/A;T snv 4.2E-06; 8.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1250875000
rs1250875000
CRYAA2 ; LOC102724701 ; LOC102724843
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs398122947
rs398122947
CRYAA ; LOC107987300
3 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019