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: rs886041459
rs886041459
TUBB3
3 0.925 0.080 16 89935140 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs587784505
rs587784505
TUBB3
3 0.882 0.160 16 89934743 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs68043642
rs68043642
CHST6
1 1.000 0.080 16 75479764 missense variant A/C snv 0.700 1.000 17 2000 2015
dbSNP: rs72547549
rs72547549
CHST6
1 1.000 0.080 16 75479738 missense variant G/A snv 1.4E-05 0.700 0
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: rs72547548
rs72547548
CHST6
1 1.000 0.080 16 75479647 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs72547547
rs72547547
CHST6
1 1.000 0.080 16 75479633 missense variant C/A;G snv 4.0E-06 0.700 0
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: 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: rs72547546
rs72547546
CHST6
1 1.000 0.080 16 75479539 missense variant C/A;G snv 4.0E-06 7.0E-06 0.700 0
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: rs1158093021
rs1158093021
CHST6
1 1.000 0.080 16 75479519 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs72547545
rs72547545
CHST6
1 1.000 0.080 16 75479509 missense variant A/C;G snv 2.8E-05 0.700 0
dbSNP: rs72547544
rs72547544
CHST6
2 0.925 0.080 16 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs1265310255
rs1265310255
CHST6
1 1.000 0.080 16 75479466 missense variant G/T snv 8.0E-06 0.700 0
dbSNP: rs758105699
rs758105699
CHST6
1 1.000 0.080 16 75479464 missense variant T/G snv 4.0E-06 3.5E-05 0.700 0
dbSNP: rs72547543
rs72547543
CHST6
1 1.000 0.080 16 75479446 missense variant G/A snv 0.710 1.000 1 2006 2006
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: 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: rs72547542
rs72547542
CHST6
1 1.000 0.080 16 75479332 missense variant C/A;G snv 1.2E-05 7.0E-06 0.700 0
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: rs28937877
rs28937877
CHST6
1 1.000 0.080 16 75479308 missense variant T/C snv 0.800 1.000 3 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: rs529839563
rs529839563
CHST6
1 1.000 0.080 16 75479254 frameshift variant CGGGGTCGCTGAGCAGCGG/- delins 0.010 1.000 1 2011 2011
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