Gene: BBS2 ×
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: rs1047075022
rs1047075022
BBS2
1 1.000 0.120 16 56506119 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1166717771
rs1166717771
BBS2
1 1.000 0.120 16 56485680 stop gained C/A snv 0.700 0
dbSNP: rs137854887
rs137854887
BBS2
1 1.000 0.120 16 56510923 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1555520220
rs1555520220
BBS2
1 1.000 0.120 16 56485611 stop gained G/A snv 0.700 0
dbSNP: rs1555520256
rs1555520256
BBS2
1 1.000 0.120 16 56485739 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555521489
rs1555521489
BBS2
1 1.000 0.120 16 56497742 splice donor variant C/T snv 0.700 0
dbSNP: rs1555522000
rs1555522000
BBS2
1 1.000 0.120 16 56501498 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555522252
rs1555522252
BBS2
1 1.000 0.120 16 56502693 frameshift variant -/GA delins 0.700 0
dbSNP: rs1555523964
rs1555523964
BBS2
1 1.000 0.120 16 56514455 frameshift variant CTCTGTAGAACAAATCCGAA/- del 0.700 0
dbSNP: rs1555524593
rs1555524593
BBS2
1 1.000 0.120 16 56519808 frameshift variant C/- delins 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: rs4784677
rs4784677
BBS2
1 1.000 0.120 16 56514589 missense variant C/T snv 0.99 1.00 0.700 0
dbSNP: rs587777824
rs587777824
BBS2
1 1.000 0.120 16 56502673 frameshift variant T/- delins 0.700 0
dbSNP: rs587777825
rs587777825
BBS2
1 1.000 0.120 16 56514681 splice acceptor variant C/G snv 0.700 0
dbSNP: rs745951028
rs745951028
BBS2
1 1.000 0.120 16 56485697 frameshift variant TTAAGGT/- del 1.4E-05 0.700 0
dbSNP: rs746171104
rs746171104
BBS2
1 1.000 0.120 16 56502672 splice donor variant C/- del 8.0E-06 0.700 0
dbSNP: rs767373822
rs767373822
BBS2
2 0.925 0.120 16 56510871 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs773862084
rs773862084
BBS2
3 0.882 0.120 16 56510858 splice donor variant C/A snv 9.9E-05 3.5E-05 0.700 0
dbSNP: rs777234811
rs777234811
BBS2
1 1.000 0.120 16 56502457 splice acceptor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs878962682
rs878962682
BBS2
1 1.000 0.120 16 56502458 splice acceptor variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1368647604
rs1368647604
BBS2
1 1.000 0.120 16 56511228 frameshift variant A/- del 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1555521379
rs1555521379
BBS2
1 1.000 0.120 16 56496967 frameshift variant AT/- del 0.700 1.000 1 2005 2005
dbSNP: rs773417074
rs773417074
BBS2
1 1.000 0.120 16 56506209 frameshift variant AA/- delins 8.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1273181642
rs1273181642
BBS2
2 0.925 0.120 16 56510004 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs121908180
rs121908180
BBS2
3 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2010 2010