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: rs587784145
rs587784145
1 1.000 0.040 5 177269690 frameshift variant TTTTTTG/- del 0.700 0
dbSNP: rs587784097
rs587784097
1 1.000 0.040 5 177211581 frameshift variant TG/- delins 0.700 0
dbSNP: rs398124379
rs398124379
1 1.000 0.040 5 177267692 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs587784206
rs587784206
1 1.000 0.040 5 177293887 inframe deletion TCT/- delins 0.700 0
dbSNP: rs587784082
rs587784082
1 1.000 0.040 5 177210520 frameshift variant TACA/- delins 0.700 0
dbSNP: rs587784152
rs587784152
1 1.000 0.040 5 177273777 frameshift variant TA/- delins 0.700 0
dbSNP: rs1562305653
rs1562305653
1 1.000 0.040 5 177292061 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs587784111
rs587784111
1 1.000 0.040 5 177238509 splice donor variant T/G snv 0.700 0
dbSNP: rs1554204921
rs1554204921
1 1.000 0.040 5 177283797 missense variant T/C snv 0.700 0
dbSNP: rs587784144
rs587784144
1 1.000 0.040 5 177269688 missense variant T/C snv 0.700 0
dbSNP: rs587784162
rs587784162
1 1.000 0.040 5 177280827 missense variant T/C snv 0.700 0
dbSNP: rs587784171
rs587784171
1 1.000 0.040 5 177282561 missense variant T/C snv 0.700 0
dbSNP: rs587784175
rs587784175
1 1.000 0.040 5 177283820 missense variant T/C snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs587784128
rs587784128
1 1.000 0.040 5 177257040 missense variant T/A;G snv 0.700 0
dbSNP: rs587784167
rs587784167
1 1.000 0.040 5 177282499 missense variant T/A;C snv 0.700 0
dbSNP: rs1554204122
rs1554204122
1 1.000 0.040 5 177280700 missense variant T/A snv 0.700 0
dbSNP: rs587784210
rs587784210
1 1.000 0.040 5 177293972 missense variant T/A snv 0.700 0
dbSNP: rs587784073
rs587784073
1 1.000 0.040 5 177209854 frameshift variant T/- delins 0.700 0
dbSNP: rs587784125
rs587784125
1 1.000 0.040 5 177251833 frameshift variant T/- del 0.700 0
dbSNP: rs587784164
rs587784164
1 1.000 0.040 5 177282475 frameshift variant T/- del 0.700 0
dbSNP: rs587784165
rs587784165
1 1.000 0.040 5 177282483 frameshift variant T/- del 0.700 0
dbSNP: rs587784192
rs587784192
1 1.000 0.040 5 177292058 frameshift variant T/- delins 0.700 0
dbSNP: rs587784221
rs587784221
1 1.000 0.040 5 177295410 frameshift variant T/- delins 0.700 0
dbSNP: rs587784103
rs587784103
1 1.000 0.040 5 177211977 frameshift variant GTGAC/- del 0.700 0
dbSNP: rs587784094
rs587784094
1 1.000 0.040 5 177211442 frameshift variant GT/- delins 0.700 0