Gene: BBS7 ×
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: rs10084948
rs10084948
BBS7
1 4 121844494 intron variant C/T snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs1048433
rs1048433
BBS7
1 4 121827841 3 prime UTR variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12510839
rs12510839
BBS7
1 4 121839813 intron variant G/A snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs13119055
rs13119055
BBS7
1 4 121834007 intron variant T/C snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs13145213
rs13145213
BBS7
1 4 121828924 intron variant C/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs13152701
rs13152701
BBS7
1 4 121829906 intron variant G/A snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs17005256
rs17005256
BBS7
1 4 121834090 intron variant A/G snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs3762840
rs3762840
CCNA2 ; BBS7
1 4 121825441 3 prime UTR variant A/T snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs9995319
rs9995319
BBS7
2 4 121849522 intron variant G/C snv 0.29 0.700 1.000 1 2012 2012