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: rs104894193
rs104894193
2 0.925 0.120 11 44275472 missense variant C/T snv 1.2E-05 0.800 1.000 2 2000 2001
dbSNP: rs104894196
rs104894196
1 1.000 0.120 11 44267585 missense variant C/G;T snv 0.800 1.000 2 2000 2001
dbSNP: rs104894191
rs104894191
1 1.000 0.120 11 44309645 stop gained G/A snv 0.700 0
dbSNP: rs104894192
rs104894192
1 1.000 0.120 11 44275389 stop gained G/A snv 0.700 0
dbSNP: rs104894197
rs104894197
1 1.000 0.120 11 44275505 stop gained G/A;T snv 2.0E-05 0.700 0
dbSNP: rs387906325
rs387906325
1 1.000 0.120 11 44309669 frameshift variant CGTCTTGCAG/- delins 0.700 0
dbSNP: rs587776614
rs587776614
1 1.000 0.120 11 44275621 frameshift variant A/- del 0.700 0
dbSNP: rs587777700
rs587777700
1 1.000 0.120 11 44275479 missense variant G/A;C snv 0.700 0
dbSNP: rs587777702
rs587777702
1 1.000 0.120 11 44265105 frameshift variant GCACCGGGTC/AGTTGCCATCTCTGTTGAGATCTTAG delins 0.700 0