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: rs45471299
rs45471299
TH
2 1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 0.800 0
dbSNP: rs786204540
rs786204540
TH
1 1.000 0.040 11 2165284 stop gained G/A snv 0.700 1.000 2 2010 2014
dbSNP: rs1554922434
rs1554922434
TH
1 1.000 0.040 11 2165284 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1554922441
rs1554922441
TH
1 1.000 0.040 11 2165300 stop gained G/T snv 0.700 0
dbSNP: rs367874223
rs367874223
TH
2 0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05 0.700 1.000 20 1995 2014
dbSNP: rs1264884607
rs1264884607
TH
1 1.000 0.040 11 2165679 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1554922593
rs1554922593
TH
1 1.000 0.040 11 2165688 frameshift variant CAGCA/- delins 0.700 0
dbSNP: rs370962049
rs370962049
TH
1 1.000 0.040 11 2165721 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 20 1995 2014
dbSNP: rs121917762
rs121917762
TH
3 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 20 1995 2014
dbSNP: rs745551241
rs745551241
TH
1 1.000 0.040 11 2165739 missense variant C/G;T snv 4.0E-06 0.700 1.000 20 1995 2014
dbSNP: rs587776767
rs587776767
TH
1 1.000 0.040 11 2165787 intron variant A/T snv 0.700 0
dbSNP: rs1057516819
rs1057516819
TH
1 1.000 0.040 11 2166001 splice donor variant C/T snv 0.700 0
dbSNP: rs1057520384
rs1057520384
TH
1 1.000 0.040 11 2166003 missense variant G/A;T snv 5.9E-06; 5.9E-06 0.700 1.000 20 1995 2014
dbSNP: rs763039181
rs763039181
TH
1 1.000 0.040 11 2166045 missense variant G/A snv 1.8E-05 0.700 1.000 20 1995 2014
dbSNP: rs1554922725
rs1554922725
TH
1 1.000 0.040 11 2166054 missense variant A/G snv 0.700 1.000 20 1995 2014
dbSNP: rs763198914
rs763198914
TH
1 1.000 0.040 11 2166495 missense variant G/A;C snv 4.7E-06; 4.7E-06 0.700 1.000 20 1995 2014
dbSNP: rs1057517162
rs1057517162
TH
1 1.000 0.040 11 2166530 frameshift variant G/- del 0.700 0
dbSNP: rs121917765
rs121917765
TH
1 1.000 0.040 11 2166544 missense variant C/A snv 0.800 1.000 20 1995 2014
dbSNP: rs1057516736
rs1057516736
TH
1 1.000 0.040 11 2166632 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516491
rs1057516491
TH
1 1.000 0.040 11 2166689 frameshift variant C/- del 0.700 0
dbSNP: rs28934580
rs28934580
TH
1 1.000 0.040 11 2166693 missense variant C/T snv 0.700 1.000 20 1995 2014
dbSNP: rs1428589694
rs1428589694
TH
1 1.000 0.040 11 2166721 missense variant G/A snv 0.700 1.000 20 1995 2014
dbSNP: rs1288483479
rs1288483479
TH
1 1.000 0.040 11 2166760 missense variant C/T snv 7.0E-06 0.800 1.000 22 1995 2017
dbSNP: rs121917764
rs121917764
TH
1 1.000 0.040 11 2166762 missense variant G/A;C snv 7.0E-06 0.700 1.000 20 1995 2014
dbSNP: rs1554923004
rs1554923004
TH
1 1.000 0.040 11 2166764 frameshift variant -/C delins 0.700 0