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: rs587777083
rs587777083
IFT172
1 1.000 2 27470948 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs587777087
rs587777087
IFT172
1 1.000 2 27453428 stop gained G/A snv 8.0E-06 0.700 0