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: rs1555802009
rs1555802009
MKKS
1 1.000 0.120 20 10412902 stop gained T/A snv 0.700 0
dbSNP: rs753338844
rs753338844
MKKS
1 1.000 0.120 20 10413396 stop gained G/C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs74315396
rs74315396
MKKS
5 0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04 0.700 0
dbSNP: rs606231137
rs606231137
BBS9
3 0.882 0.120 7 33383752 frameshift variant AACA/- delins 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: 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: rs869025204
rs869025204
BBS1
1 1.000 0.120 11 66511010 splice region variant C/G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs764245266
rs764245266
BBS1
1 1.000 0.120 11 66511011 splice acceptor variant A/C snv 8.0E-06 0.700 0
dbSNP: rs751753112
rs751753112
BBS1
1 1.000 0.120 11 66511012 splice acceptor variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs775990952
rs775990952
BBS1
1 1.000 0.120 11 66511069 missense variant A/G snv 8.0E-06 0.700 1.000 8 2002 2011
dbSNP: rs1057516449
rs1057516449
BBS1
1 1.000 0.120 11 66511090 splice donor variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs1313590454
rs1313590454
BBS1
1 1.000 0.120 11 66511236 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1057516507
rs1057516507
BBS1
1 1.000 0.120 11 66511241 splice donor variant T/A snv 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: rs1057516451
rs1057516451
BBS1
1 1.000 0.120 11 66514469 frameshift variant CT/- del 0.700 1.000 2 2003 2011
dbSNP: rs1555046611
rs1555046611
BBS1
1 1.000 0.120 11 66514590 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs587777829
rs587777829
BBS1
2 0.925 0.120 11 66514679 splice donor variant G/A snv 0.700 0
dbSNP: rs1555046748
rs1555046748
BBS1
1 1.000 0.120 11 66515538 splice acceptor variant A/G snv 0.700 0
dbSNP: rs200688985
rs200688985
BBS1
1 1.000 0.120 11 66515549 missense variant G/A snv 2.9E-04 7.0E-05 0.700 1.000 8 2002 2011
dbSNP: rs376894444
rs376894444
BBS1
2 0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05 0.800 1.000 13 2002 2015
dbSNP: rs1353098253
rs1353098253
BBS1
1 1.000 0.120 11 66515588 splice donor variant T/G snv 2.1E-05 0.700 0
dbSNP: rs1057516933
rs1057516933
BBS1
1 1.000 0.120 11 66515692 splice acceptor variant G/C snv 0.700 1.000 1 2011 2011
dbSNP: rs771517209
rs771517209
BBS1
1 1.000 0.120 11 66515732 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1057516502
rs1057516502
BBS1
1 1.000 0.120 11 66515859 splice acceptor variant A/G snv 0.700 0