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: rs1158093021
rs1158093021
CHST6
1 1.000 0.080 16 75479519 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs117435647
rs117435647
CHST6
1 1.000 0.080 16 75479345 missense variant G/C;T snv 3.5E-02; 8.1E-06 0.700 0
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: rs121917822
rs121917822
CHST6
1 1.000 0.080 16 75479525 missense variant A/C snv 8.0E-06 2.8E-05 0.800 1.000 17 2000 2015
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 17 2000 2015
dbSNP: rs1265310255
rs1265310255
CHST6
1 1.000 0.080 16 75479466 missense variant G/T snv 8.0E-06 0.700 0
dbSNP: rs1384294258
rs1384294258
CHST6
1 1.000 0.080 16 75478757 missense variant A/G snv 4.0E-06 0.700 0
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: rs202175444
rs202175444
CHST6
1 1.000 0.080 16 75479198 missense variant G/A snv 4.1E-06 0.710 1.000 17 2000 2015
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: rs28937877
rs28937877
CHST6
1 1.000 0.080 16 75479308 missense variant T/C snv 0.800 1.000 3 2000 2015
dbSNP: rs28937878
rs28937878
CHST6
1 1.000 0.080 16 75479220 missense variant G/T snv 0.800 0
dbSNP: rs28937879
rs28937879
CHST6
2 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.820 1.000 10 2002 2014
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: rs374493344
rs374493344
CHST6
1 1.000 0.080 16 75479213 missense variant C/A;T snv 4.1E-06; 8.3E-06 0.700 0
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: rs377617168
rs377617168
CHST6
1 1.000 0.080 16 75479615 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs377706989
rs377706989
CHST6
1 1.000 0.080 16 75479215 missense variant C/T snv 8.3E-06 1.4E-05 0.700 0
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