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: rs1057516330
rs1057516330
BBS1 ; ZDHHC24
1 1.000 0.120 11 66521331 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516371
rs1057516371
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516427
rs1057516427
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523480 stop gained C/A snv 0.700 0
dbSNP: rs1057516502
rs1057516502
BBS1
1 1.000 0.120 11 66515859 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516507
rs1057516507
BBS1
1 1.000 0.120 11 66511241 splice donor variant T/A snv 0.700 0
dbSNP: rs1057516533
rs1057516533
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523842 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516661
rs1057516661
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523723 splice acceptor variant G/A;C snv 1.4E-05 0.700 0
dbSNP: rs1057516901
rs1057516901
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529901 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517007
rs1057517007
BBS1
1 1.000 0.120 11 66514426 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs1057517332
rs1057517332
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523454 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1060503690
rs1060503690
BBS1 ; ZDHHC24
2 0.925 0.120 11 66526708 stop gained G/T snv 0.700 0
dbSNP: rs113994179
rs113994179
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1166022838
rs1166022838
BBS1
2 0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs1182864166
rs1182864166
BBS1
1 1.000 0.120 11 66510708 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
2 0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1306821707
rs1306821707
BBS1
1 1.000 0.120 11 66510660 start lost A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs1313590454
rs1313590454
BBS1
1 1.000 0.120 11 66511236 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1353098253
rs1353098253
BBS1
1 1.000 0.120 11 66515588 splice donor variant T/G snv 2.1E-05 0.700 0
dbSNP: rs138410949
rs138410949
KIF7
2 0.925 0.120 15 89631625 missense variant T/C snv 1.6E-03 2.0E-03 0.700 0
dbSNP: rs1460517643
rs1460517643
BBS10
2 0.925 0.120 12 76348195 missense variant A/G snv 2.1E-05 0.700 0
dbSNP: rs147191956
rs147191956
TICRR ; KIF7
1 1.000 0.120 15 89630403 missense variant G/A snv 4.2E-04 2.7E-04 0.700 0
dbSNP: rs1555046748
rs1555046748
BBS1
1 1.000 0.120 11 66515538 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555047786
rs1555047786
BBS1 ; ZDHHC24
1 1.000 0.120 11 66521322 frameshift variant T/- delins 0.700 0
dbSNP: rs1555049893
rs1555049893
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529818 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555049933
rs1555049933
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529870 frameshift variant -/TGCC delins 0.700 0