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: rs28937879
rs28937879
CHST6
1 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.820 1.000 2 2002 2014
dbSNP: rs121917824
rs121917824
CHST6
1 1.000 0.080 16 75479002 missense variant A/G snv 5.7E-05 1.4E-05 0.810 1.000 1 2000 2015
dbSNP: rs202175444
rs202175444
CHST6
1 1.000 0.080 16 75479198 missense variant G/A snv 4.1E-06 0.710 1.000 1 2000 2015
dbSNP: rs376162109
rs376162109
CHST6
1 1.000 0.080 16 75479272 missense variant G/C;T snv 1.6E-05; 3.6E-05 0.710 1.000 1 2011 2011
dbSNP: rs72547543
rs72547543
CHST6
1 1.000 0.080 16 75479446 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs752785520
rs752785520
CHST6
2 0.925 0.080 16 75479180 missense variant C/T snv 4.2E-06 0.710 1.000 1 2003 2003
dbSNP: rs119103229
rs119103229
HLCS
1 0.925 0.120 21 36765170 missense variant G/A snv 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs231775
rs231775
CTLA4
114 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs529839563
rs529839563
CHST6
1 1.000 0.080 16 75479254 frameshift variant CGGGGTCGCTGAGCAGCGG/- delins 0.010 1.000 1 2011 2011
dbSNP: rs57218384
rs57218384
KRT12 ; LOC105371777
2 0.925 0.080 17 40866783 missense variant C/A;G snv 0.010 1.000 1 1997 1997
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs58038639
rs58038639
KRT12 ; LOC105371777
2 0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs58162394
rs58162394
KRT12 ; LOC105371777
1 0.925 0.080 17 40863154 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs58343600
rs58343600
KRT12 ; LOC105371777
1 0.925 0.080 17 40866760 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs587784505
rs587784505
TUBB3
1 0.882 0.160 16 89934743 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs58918655
rs58918655
KRT12 ; LOC105371777
1 0.925 0.080 17 40866768 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs59202432
rs59202432
KRT12 ; LOC105371777
1 0.925 0.080 17 40863153 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs60410063
rs60410063
KRT3
1 0.925 0.080 12 52791233 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs72547536
rs72547536
CHST6
1 1.000 0.080 16 75478838 stop gained G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs758259312
rs758259312
CHST6
1 1.000 0.080 16 75478844 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs763075517
rs763075517
CHST6
3 0.882 0.080 16 75479311 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764372925
rs764372925
CHST6
1 1.000 0.080 16 75478719 synonymous variant G/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs770962055
rs770962055
CHST6
1 1.000 0.080 16 75478754 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs886041459
rs886041459
TUBB3
3 0.925 0.080 16 89935140 missense variant C/T snv 0.010 1.000 1 2016 2016