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: rs188675529
rs188675529
THAP11 ; CENPT
11 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
dbSNP: rs121918258
rs121918258
MMUT
5 0.851 0.200 6 49457801 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs727504020
rs727504020
MMUT
4 0.882 0.200 6 49451591 stop gained G/A;C snv 4.0E-05; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs748129702
rs748129702
MMUT
2 1.000 0.080 6 49451555 stop gained C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001