Gene: CLPTM1L ×
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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.730 0.750 4 2013 2019
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.020 0.500 2 2009 2013
dbSNP: rs31490
rs31490
CLPTM1L
8 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 0.010 1.000 1 2017 2017