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: rs1555047409
rs1555047409
BBS1
1 1.000 0.120 11 66519618 splice acceptor variant GTCA/- delins 0.700 0
dbSNP: rs1555202695
rs1555202695
BBS10
1 1.000 0.120 12 76347338 frameshift variant -/C delins 0.700 0
dbSNP: rs193922710
rs193922710
BBS2
2 0.925 0.120 16 56502382 stop gained G/A snv 0.700 0
dbSNP: rs193922711
rs193922711
BBS2
2 0.925 0.120 16 56497770 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs200865108
rs200865108
MKS1
1 1.000 0.120 17 58207143 missense variant A/G snv 4.2E-04 1.5E-03 0.700 0
dbSNP: rs201063733
rs201063733
BBS2
2 0.925 0.120 16 56497063 stop gained G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs201196733
rs201196733
BBS2
2 0.925 0.120 16 56497013 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs201619500
rs201619500
MKS1
1 1.000 0.120 17 58207104 missense variant C/T snv 2.2E-03 2.3E-03 0.700 0
dbSNP: rs367882912
rs367882912
BBS4
1 1.000 0.120 15 72724581 stop gained T/A;C snv 1.4E-04; 2.0E-05 0.700 0
dbSNP: rs397515335
rs397515335
SDCCAG8 ; MIR4677
2 0.925 0.120 1 243344277 frameshift variant G/- delins 0.700 0
dbSNP: rs515726135
rs515726135
LZTFL1
2 0.925 0.120 3 45835653 missense variant A/G snv 0.700 0
dbSNP: rs515726136
rs515726136
LZTFL1 ; LOC107986083
2 0.925 0.120 3 45827459 stop gained C/A snv 8.0E-06 0.700 0
dbSNP: rs587777807
rs587777807
TTC8
2 0.925 0.120 14 88870200 splice donor variant TGC/- del 4.0E-06 0.700 0
dbSNP: rs746478265
rs746478265
BBS12
1 1.000 0.120 4 122743945 frameshift variant ACAG/- delins 0.700 0
dbSNP: rs747388658
rs747388658
BBS9
1 1.000 0.120 7 33155682 frameshift variant TT/-;T delins 7.3E-05; 8.1E-06 0.700 0
dbSNP: rs749974697
rs749974697
BBS9
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
6 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs761101213
rs761101213
BBS10
2 0.925 0.120 12 76347298 frameshift variant A/- del 2.0E-05 2.1E-05 0.700 0
dbSNP: rs762047808
rs762047808
BBS2
2 0.925 0.120 16 56497760 stop gained G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs762511626
rs762511626
BBS9
1 1.000 0.120 7 33349108 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs770872200
rs770872200
BBS12
2 0.925 0.120 4 122742574 frameshift variant -/T ins 1.4E-05 0.700 0
dbSNP: rs770891152
rs770891152
BBS4
1 1.000 0.120 15 72731650 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs773139166
rs773139166
BBS7
1 1.000 0.120 4 121845671 stop gained TA/- delins 5.2E-05 4.9E-05 0.700 0
dbSNP: rs775081992
rs775081992
BBS9
5 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs779690256
rs779690256
BBS2
2 0.925 0.120 16 56506137 stop gained G/A snv 2.8E-05 7.0E-06 0.700 0