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: rs199882533
rs199882533
TTLL5
1 1.000 14 75764691 stop gained G/A;T snv 2.4E-04 0.800 0
dbSNP: rs1555345387
rs1555345387
TTLL5
1 1.000 14 75783325 frameshift variant -/A delins 0.700 0
dbSNP: rs1555384338
rs1555384338
TTLL5
1 1.000 14 75720648 missense variant A/T snv 0.700 0
dbSNP: rs587777469
rs587777469
TTLL5
1 1.000 14 75764648 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs587777470
rs587777470
TTLL5
1 1.000 14 75690221 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs587777471
rs587777471
TTLL5
1 1.000 14 75863694 stop gained G/A snv 0.700 0