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: rs2245368
rs2245368
DTX2P1-UPK3BP1-PMS2P11 ; LOC105375361
3 7 76978826 non coding transcript exon variant C/T snv 0.80 0.700 1.000 5 2015 2018
dbSNP: rs2287019
rs2287019
QPCTL
7 1.000 0.080 19 45698914 intron variant C/T snv 0.17 0.16 0.700 1.000 5 2010 2018
dbSNP: rs2531995
rs2531995
ADCY9
7 1.000 0.080 16 3963466 3 prime UTR variant C/T snv 0.45 0.700 1.000 5 2014 2019
dbSNP: rs2650492
rs2650492
SBK1
5 16 28322090 3 prime UTR variant G/A snv 0.20 0.700 1.000 5 2015 2018
dbSNP: rs3888190
rs3888190
ATP2A1
3 16 28878165 upstream gene variant C/A;T snv 0.35 0.700 1.000 5 2015 2017
dbSNP: rs4740619
rs4740619
CCDC171
1 9 15634328 intron variant T/A;C snv 0.700 1.000 5 2015 2019
dbSNP: rs6091540
rs6091540
LINC01524 ; LOC105372666 ; LOC105372667
2 20 52471323 intron variant C/T snv 0.26 0.700 1.000 5 2015 2018
dbSNP: rs6477694
rs6477694 		1 9 109170062 upstream gene variant C/T snv 0.61 0.700 1.000 5 2015 2019
dbSNP: rs6804842
rs6804842
RARB
3 3 25064946 intron variant A/G snv 0.53 0.700 1.000 5 2015 2019
dbSNP: rs709400
rs709400
KLC1
1 14 103683138 non coding transcript exon variant A/G snv 0.30 0.700 1.000 5 2015 2019
dbSNP: rs7647305
rs7647305
DGKG
8 1.000 0.080 3 186116501 intron variant T/C snv 0.74 0.700 1.000 5 2009 2019
dbSNP: rs9641123
rs9641123
CALCR
3 7 93568420 intron variant G/C snv 0.30 0.700 1.000 5 2015 2018
dbSNP: rs972540
rs972540 		1 2 206380059 intergenic variant A/G snv 0.23 0.700 1.000 5 2015 2019
dbSNP: rs987237
rs987237
TFAP2B
10 0.925 0.120 6 50835337 intron variant A/G snv 0.17 0.700 1.000 5 2010 2019
dbSNP: rs1016287
rs1016287 		2 2 59078490 intron variant T/A;C;G snv 0.700 1.000 4 2015 2019
dbSNP: rs10269783
rs10269783 		2 7 49576607 intron variant G/A snv 0.36 0.700 1.000 4 2017 2019
dbSNP: rs10733682
rs10733682
LMX1B
1 9 126698635 3 prime UTR variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs10929925
rs10929925 		3 2 6015425 intergenic variant C/A;T snv 0.700 1.000 4 2015 2019
dbSNP: rs11611246
rs11611246
WNK1
1 12 830314 intron variant G/T snv 0.19 0.700 1.000 4 2015 2019
dbSNP: rs11671664
rs11671664
GIPR
5 0.925 0.120 19 45669020 intron variant G/A snv 0.12 0.700 1.000 4 2012 2017
dbSNP: rs11676272
rs11676272
ADCY3
5 1.000 0.040 2 24918669 missense variant A/G snv 0.47 0.57 0.700 1.000 4 2015 2019
dbSNP: rs11688816
rs11688816
EHBP1
1 2 62825913 intron variant G/A snv 0.44 0.700 1.000 4 2015 2018
dbSNP: rs11847697
rs11847697
PRKD1
5 14 30045906 intron variant C/T snv 0.13 0.700 1.000 4 2010 2018
dbSNP: rs11866815
rs11866815
AXIN1
1 16 337867 intron variant C/T snv 0.29 0.700 1.000 4 2015 2019
dbSNP: rs12566985
rs12566985
TNNI3K ; FPGT-TNNI3K ; LRRC53
2 1 74536509 intron variant G/A snv 0.42 0.700 1.000 4 2015 2017