Source: CURATED ×
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: rs11577139
rs11577139 		1 1.000 0.080 1 98200569 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1218582
rs1218582
KCNN3
2 0.925 0.080 1 154861707 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs4245739
rs4245739
MDM4
6 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.720 1.000 1 2013 2015
dbSNP: rs142173175
rs142173175
EPHB2
1 1.000 0.080 1 22906770 missense variant T/C snv 1.2E-03 4.7E-03 0.700 0
dbSNP: rs201754821
rs201754821
EPHB2
1 1.000 0.080 1 22784861 missense variant G/A snv 8.8E-05 3.5E-05 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
11 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs35882952
rs35882952
EPHB2 ; MIR4253
1 1.000 0.080 1 22863060 missense variant G/C;T snv 4.0E-06; 1.1E-03 0.700 0
dbSNP: rs372653137
rs372653137
EPHB2
1 1.000 0.080 1 22910526 missense variant A/G snv 4.0E-05 1.8E-04 0.700 0
dbSNP: rs10187424
rs10187424
VAMP8
2 0.925 0.080 2 85567174 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10931777
rs10931777
ANKRD44 ; ANKRD44-IT1
1 1.000 0.080 2 197278867 intron variant C/T snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs11902236
rs11902236
GRHL1
2 0.925 0.080 2 9977740 intron variant C/T snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs12621278
rs12621278
ITGA6
3 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.710 1.000 1 2009 2010
dbSNP: rs13385191
rs13385191
LDAH
2 0.925 0.080 2 20688505 intron variant A/G snv 0.20 0.720 1.000 1 2010 2014
dbSNP: rs1465618
rs1465618
THADA
3 0.882 0.160 2 43326810 intron variant T/C snv 0.80 0.720 0.667 1 2009 2016
dbSNP: rs16824376
rs16824376
PLCL1
1 1.000 0.080 2 197819618 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs1851779
rs1851779
BOLL
1 1.000 0.080 2 197782384 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs2292884
rs2292884
MLPH
2 0.925 0.080 2 237534583 missense variant A/G snv 0.28 0.34 0.710 1.000 1 2011 2011
dbSNP: rs2293255
rs2293255
BOLL
1 1.000 0.080 2 197756782 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs3771570
rs3771570
FARP2
2 0.925 0.080 2 241443449 3 prime UTR variant C/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs6545977
rs6545977 		3 0.882 0.160 2 63074029 regulatory region variant G/A snv 0.50 0.700 1.000 1 2009 2009
dbSNP: rs6707521
rs6707521
PLCL1
1 1.000 0.080 2 197848507 intron variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs6727480
rs6727480
ANKRD44 ; ANKRD44-IT1
1 1.000 0.080 2 197279147 intron variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs721048
rs721048
EHBP1
4 0.851 0.200 2 62904596 intron variant G/A snv 0.13 0.710 1.000 1 2008 2008
dbSNP: rs7584330
rs7584330 		2 0.925 0.080 2 237478585 intergenic variant A/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs996427
rs996427
PLCL1
1 1.000 0.080 2 197820885 intron variant G/A snv 0.20 0.700 1.000 1 2012 2012