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: rs767568897
rs767568897
LIPT1 ; MITD1
1 1.000 2 99162169 missense variant C/G;T snv 8.0E-06; 8.8E-05 0.800 1.000 2 2013 2014
dbSNP: rs137973334
rs137973334
LIPT1 ; MITD1
1 1.000 2 99162249 missense variant C/G;T snv 1.2E-04; 4.0E-06 0.800 0
dbSNP: rs786205156
rs786205156
LIPT1 ; MITD1
1 1.000 2 99162492 missense variant A/G snv 4.0E-06 0.800 0
dbSNP: rs137891647
rs137891647
LIPT1 ; MITD1
1 1.000 2 99162832 stop gained C/G snv 3.6E-04 4.6E-04 0.700 1.000 1 2013 2013