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: rs1028877309
rs1028877309
MMUT
1 6 49457690 splice donor variant C/T snv 7.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs104893851
rs104893851
MMAA
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 1.000 5 2004 2017
dbSNP: rs121918251
rs121918251
MMUT
3 0.925 0.080 6 49459189 missense variant C/T snv 6.4E-05 4.2E-05 0.700 1.000 2 1991 2016
dbSNP: rs121918252
rs121918252
MMUT
3 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.700 1.000 2 2006 2016
dbSNP: rs121918256
rs121918256
MMUT
3 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.720 1.000 4 2001 2009
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: 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: rs28941784
rs28941784
MMAB
2 1.000 0.080 12 109561068 missense variant G/A snv 1.4E-04 1.5E-04 0.700 1.000 2 2002 2006
dbSNP: rs369296618
rs369296618
MMAB
2 1.000 0.080 12 109557081 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 3 2006 2012
dbSNP: rs398123278
rs398123278
MMUT
4 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2006 2016
dbSNP: rs483352778
rs483352778
MMUT
3 0.925 0.080 6 49459144 missense variant C/T snv 2.0E-05; 4.0E-06 1.4E-05 0.700 1.000 5 2001 2010
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: rs746085723
rs746085723
MMUT
1 6 49453583 splice donor variant A/T snv 4.0E-06; 8.0E-06 1.4E-05 0.700 1.000 1 2015 2015
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: rs752898811
rs752898811
MMUT
2 1.000 0.080 6 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 2 2005 2006
dbSNP: rs753288303
rs753288303
MMUT
2 1.000 0.080 6 49451518 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2014 2015
dbSNP: rs756195708
rs756195708
MMAB
2 1.000 0.080 12 109561040 missense variant C/T snv 8.1E-06 1.4E-05 0.700 1.000 2 2010 2015
dbSNP: rs757548934
rs757548934
MMAA
1 4 145651070 stop gained C/T snv 1.2E-05 0.700 1.000 4 2004 2015
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: rs761477436
rs761477436
MMUT
2 1.000 0.080 6 49456141 stop gained C/A;T snv 1.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs761525156
rs761525156
MMUT
2 1.000 0.080 6 49447699 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2005 2005
dbSNP: rs763935916
rs763935916
MMAB
2 1.000 0.080 12 109568864 splice acceptor variant C/A snv 4.0E-05 1.4E-05 0.700 1.000 3 2002 2016
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: rs765799472
rs765799472
MMAA
2 1.000 0.080 4 145639203 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 2 2004 2012