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: rs104894434
rs104894434
2 0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs104894435
rs104894435
3 0.882 0.120 14 54902341 missense 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: rs1057516712
rs1057516712
TH
1 1.000 0.040 11 2167011 frameshift variant C/- del 0.700 0
dbSNP: rs1057516716
rs1057516716
1 1.000 0.040 11 2171774 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516736
rs1057516736
TH
1 1.000 0.040 11 2166632 splice donor variant C/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: rs1057516874
rs1057516874
TH
1 1.000 0.040 11 2169855 splice acceptor variant CAATGAACCGCGGGGACTGTGGGGAC/- delins 0.700 0
dbSNP: rs1057517003
rs1057517003
TH
1 1.000 0.040 11 2168489 splice donor variant A/G snv 0.700 0
dbSNP: rs1057517162
rs1057517162
TH
1 1.000 0.040 11 2166530 frameshift variant G/- del 0.700 0
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: rs1266265578
rs1266265578
TH
1 1.000 0.040 11 2167865 splice donor variant C/T snv 2.1E-05 0.700 0
dbSNP: rs1273610334
rs1273610334
TH
1 1.000 0.040 11 2166985 missense variant C/A snv 4.8E-06 0.700 0
dbSNP: rs137852633
rs137852633
1 1.000 0.040 14 54845799 missense variant G/C snv 0.700 0
dbSNP: rs1554922441
rs1554922441
TH
1 1.000 0.040 11 2165300 stop gained G/T snv 0.700 0
dbSNP: rs1554922593
rs1554922593
TH
1 1.000 0.040 11 2165688 frameshift variant CAGCA/- delins 0.700 0
dbSNP: rs1554923004
rs1554923004
TH
1 1.000 0.040 11 2166764 frameshift variant -/C delins 0.700 0
dbSNP: rs1554923121
rs1554923121
TH
1 1.000 0.040 11 2167034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554923305
rs1554923305
TH
1 1.000 0.040 11 2167851 splice donor variant AGGGGCCCCTCACTGC/- delins 0.700 0
dbSNP: rs1554923317
rs1554923317
TH
1 1.000 0.040 11 2167864 splice donor variant A/T snv 0.700 0
dbSNP: rs1554923513
rs1554923513
TH
1 1.000 0.040 11 2168490 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1554923802
rs1554923802
TH
1 1.000 0.040 11 2169649 splice donor variant C/T snv 0.700 0
dbSNP: rs1554923810
rs1554923810
TH
1 1.000 0.040 11 2169665 frameshift variant -/CGGGACAGCGCCGAGGGCT delins 0.700 0
dbSNP: rs1554924357
rs1554924357
1 1.000 0.040 11 2171744 frameshift variant AAGCCCTTGGCCTGTGGCGTGGTGGCGTCGGG/- delins 0.700 0