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: rs1554967176
rs1554967176
1 1.000 0.120 11 68390053 splice donor variant G/A snv 0.700 0
dbSNP: rs1554971145
rs1554971145
1 1.000 0.120 11 68410126 frameshift variant G/- delins 0.700 0
dbSNP: rs397514663
rs397514663
1 1.000 0.120 11 68403553 missense variant C/T snv 0.700 0
dbSNP: rs397514664
rs397514664
1 1.000 0.120 11 68386445 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs746701187
rs746701187
1 1.000 0.120 11 68410019 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs750791263
rs750791263
1 1.000 0.120 11 68386510 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs757888034
rs757888034
1 1.000 0.120 11 68386600 missense variant G/A;T snv 1.2E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs80358305
rs80358305
3 0.882 0.160 11 68348188 missense variant C/T snv 0.700 0
dbSNP: rs80358319
rs80358319
1 1.000 0.120 11 68433642 frameshift variant A/- del 0.700 0
dbSNP: rs886040977
rs886040977
1 1.000 0.120 11 68386442 missense variant A/G snv 0.700 0
dbSNP: rs121908668
rs121908668
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121908674
rs121908674
3 0.882 0.160 11 68410076 missense variant C/G;T snv 0.010 1.000 1 2015 2015