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: rs119103286
rs119103286
TTC8
5 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
dbSNP: rs1555202697
rs1555202697
BBS10
5 0.882 0.160 12 76347446 missense variant C/T snv 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0