Gene: BBS5 ×
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: rs121908581
rs121908581
BBS5
2 0.925 0.120 2 169487811 missense variant G/A snv 7.0E-06 0.710 1.000 2 2019 2019
dbSNP: rs1054138918
rs1054138918
BBS5
2 0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05 0.700 1.000 1 2004 2004
dbSNP: rs1272140892
rs1272140892
BBS5
1 1.000 0.120 2 169482312 frameshift variant A/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1466289570
rs1466289570
BBS5
1 1.000 0.120 2 169503094 splice acceptor variant G/A;T snv 1.2E-05 0.700 1.000 1 2004 2004
dbSNP: rs1559121920
rs1559121920
BBS5
1 1.000 0.120 2 169487092 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs772757329
rs772757329
BBS5
1 1.000 0.120 2 169487993 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786205636
rs786205636
BBS5
7 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0