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: rs1553730872
rs1553730872
TBC1D23
2 0.925 3 100310462 frameshift variant TG/- delins 0.700 0
dbSNP: rs1553730885
rs1553730885
TBC1D23
2 0.925 3 100310515 frameshift variant T/AA delins 0.700 0
dbSNP: rs1553731603
rs1553731603
TBC1D23
1 1.000 3 100316188 splice donor variant G/A snv 0.700 0
dbSNP: rs1553731605
rs1553731605
TBC1D23
2 0.925 3 100316189 splice donor variant T/A;G snv 0.700 0