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: rs119103229
rs119103229
HLCS
2 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
115 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
2 0.925 0.080 17 40863154 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs58343600
rs58343600
KRT12 ; LOC105371777
2 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
3 0.882 0.160 16 89934743 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs58918655
rs58918655
KRT12 ; LOC105371777
2 0.925 0.080 17 40866768 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs59202432
rs59202432
KRT12 ; LOC105371777
2 0.925 0.080 17 40863153 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs60410063
rs60410063
KRT3
2 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
dbSNP: rs142954809
rs142954809
CHST6
1 1.000 0.080 16 75479374 missense variant A/C;G snv 1.2E-05 0.700 1.000 17 2000 2015
dbSNP: rs370335460
rs370335460
CHST6
1 1.000 0.080 16 75479677 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 17 2000 2015
dbSNP: rs68043642
rs68043642
CHST6
1 1.000 0.080 16 75479764 missense variant A/C snv 0.700 1.000 17 2000 2015
dbSNP: rs759870075
rs759870075
CHST6
1 1.000 0.080 16 75479218 missense variant G/C;T snv 8.3E-06 0.700 1.000 17 2000 2015
dbSNP: rs775742450
rs775742450
CHST6
1 1.000 0.080 16 75479627 missense variant A/G snv 8.0E-06 0.700 1.000 17 2000 2015
dbSNP: rs886052321
rs886052321
CHST6
1 1.000 0.080 16 75478937 stop gained G/A snv 1.6E-05 0.700 1.000 2 2009 2010
dbSNP: rs1158093021
rs1158093021
CHST6
1 1.000 0.080 16 75479519 missense variant T/C snv 7.0E-06 0.700 0