Source: BEFREE ×
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: rs1303328174
rs1303328174
GCG ; LOC101929532
1 1.000 0.120 2 162144042 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1427676
rs1427676 		1 1.000 0.120 2 203876443 downstream gene variant C/T snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs1428168076
rs1428168076
CAT
1 1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1450261764
rs1450261764
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113856592 missense variant G/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1460002897
rs1460002897
SLC26A3
1 1.000 0.120 7 107793769 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1460874866
rs1460874866
SERPINA1
1 1.000 0.120 14 94382987 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs147582772
rs147582772
TBP
1 1.000 0.120 6 170569765 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1540339
rs1540339
VDR
1 1.000 0.120 12 47863543 intron variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1592410
rs1592410 		1 1.000 0.120 6 29516191 regulatory region variant C/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs1678536
rs1678536
KIF5A
1 1.000 0.120 12 57585407 3 prime UTR variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs16919034
rs16919034
CTSV
1 1.000 0.120 9 97031301 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs17493811
rs17493811
RNF5 ; AGPAT1
1 1.000 0.120 6 32177622 5 prime UTR variant C/G snv 1.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs17583959
rs17583959
CREM
1 1.000 0.120 10 35133175 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs17653687
rs17653687
TCF7
1 1.000 0.120 5 134132309 intron variant A/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs17673553
rs17673553
CLEC16A
1 1.000 0.120 16 11148049 intron variant A/G snv 0.18 0.710 1.000 1 2007 2007
dbSNP: rs17696736
rs17696736
NAA25
1 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.810 1.000 1 2007 2010
dbSNP: rs1770
rs1770
HLA-DQB1 ; HLA-DQB1-AS1
1 1.000 0.120 6 32660056 splice region variant A/G snv 0.31 0.710 1.000 1 2019 2019
dbSNP: rs1805070
rs1805070
WFS1
1 1.000 0.120 4 6301953 missense variant A/C;G snv 1.4E-04; 7.3E-03 0.010 1.000 1 2000 2000
dbSNP: rs1950942
rs1950942 		1 1.000 0.120 14 105861856 upstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2232873
rs2232873
MIOX ; ADM2
1 1.000 0.120 22 50486669 upstream gene variant G/A snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs2234702
rs2234702
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 1.000 0.120 11 111912374 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2286899
rs2286899
GIMAP5 ; GIMAP1-GIMAP5
1 1.000 0.120 7 150743626 3 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2296336
rs2296336
ITPR3
1 1.000 0.120 6 33668883 intron variant C/G snv 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2302188
rs2302188
CEACAM21
1 1.000 0.120 19 41579520 missense variant G/A snv 0.36 0.010 < 0.001 1 2009 2009
dbSNP: rs2306630
rs2306630
TAF15 ; HEATR9
1 1.000 0.120 17 35855337 missense variant G/A snv 0.17 0.16 0.010 1.000 1 2006 2006