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: rs200319160
rs200319160
MFSD8
1 1.000 0.120 4 127932984 splice donor variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs119455955
rs119455955
TPP1
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.030 1.000 3 1998 2017
dbSNP: rs1184563885
rs1184563885
TPP1
2 0.925 0.120 11 6614892 stop gained G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs119455956
rs119455956
TPP1
2 0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001