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: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs121917710
rs121917710
GLI3
2 0.925 0.080 7 41967848 missense variant C/T snv 5.3E-03 5.1E-03 0.700 0
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs387906836
rs387906836
TULP1
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0
dbSNP: rs121917714
rs121917714
GLI3
2 0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06 0.010 1.000 1 2016 2016