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: rs780283588
rs780283588
MMUT
2 1.000 0.080 6 49457714 frameshift variant -/AA delins 1.2E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2015 2015
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: rs760782399
rs760782399
MMUT
2 1.000 0.080 6 49457872 missense variant G/T snv 3.2E-05 4.2E-05 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: rs546099787
rs546099787
MMACHC ; CCDC163
2 1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05 0.010 1.000 1 2017 2017
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
dbSNP: rs764173488
rs764173488
MMUT
3 0.925 0.200 6 49447749 stop gained A/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs78150750
rs78150750
MMUT
1 6 49444685 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs796052008
rs796052008
MMUT
1 6 49444684 stop gained CC/TA mnv 0.010 1.000 1 2003 2003