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: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.050 1.000 5 2011 2019
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.030 1.000 3 2011 2019
dbSNP: rs4373767
rs4373767 		4 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs11073058
rs11073058 		3 1.000 0.040 15 34697425 regulatory region variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1656404
rs1656404 		3 0.925 0.040 2 232515231 regulatory region variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs7084402
rs7084402 		4 0.925 0.040 10 58505644 intergenic variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs994767
rs994767 		2 1.000 0.040 1 219602090 intergenic variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1516794
rs1516794
ACAN
1 1.000 0.040 15 88861672 intron variant A/T snv 5.3E-03 0.020 1.000 2 2011 2014
dbSNP: rs3784757
rs3784757
ACAN
1 1.000 0.040 15 88860173 intron variant G/A snv 0.13 0.020 1.000 2 2011 2014
dbSNP: rs4764971
rs4764971
ACTR6 ; DEPDC4
1 1.000 0.040 12 100238019 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2011 2011
dbSNP: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.020 0.500 2 2011 2015
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: rs368943069
rs368943069
ANXA5
1 1.000 0.040 4 121678449 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs1425998598
rs1425998598
BPTF
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs7325450
rs7325450
C1QTNF9B ; PCOTH
1 1.000 0.040 13 23892865 intron variant A/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs7331047
rs7331047
C1QTNF9B ; PCOTH
1 1.000 0.040 13 23893203 intron variant T/C snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1557551678
rs1557551678
CLDN19
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs9811920
rs9811920
CMSS1
2 1.000 0.040 3 100125449 intron variant G/A snv 0.43 0.010 < 0.001 1 2016 2016
dbSNP: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
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: rs2075555
rs2075555
COL1A1
6 0.807 0.240 17 50196930 intron variant T/A;G snv 0.040 0.500 4 2007 2011