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: rs1554902028
rs1554902028
TPP1
1 1.000 0.120 11 6617352 splice donor variant A/G snv 0.700 1.000 14 1997 2012