Source: CURATED ×
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: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
dbSNP: rs121918166
rs121918166
OCA2
5 0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03 0.700 1.000 12 1993 2016
dbSNP: rs530719719
rs530719719
DUOX2
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 1.000 15 2002 2017
dbSNP: rs121908119
rs121908119
WNT10A ; LOC107984111
5 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 6 2007 2017
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 1.000 8 2002 2017
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
2 0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04 0.700 1.000 12 1997 2017
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
9 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
dbSNP: rs730880324
rs730880324
BRAT1
3 0.882 7 2543754 frameshift variant -/T delins 2.5E-04; 2.0E-05 2.3E-04 0.700 1.000 9 2006 2017
dbSNP: rs141949212
rs141949212
OCA2
5 0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 0.700 1.000 12 1993 2016
dbSNP: rs148032587
rs148032587
PMM2
2 0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04 0.700 1.000 12 1997 2017
dbSNP: rs777218310
rs777218310
ECHS1
4 0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 0.700 1.000 14 2014 2018
dbSNP: rs766667249
rs766667249
PIGQ
3 1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 0.700 1.000 9 1998 2015
dbSNP: rs387907022
rs387907022
TRMU
3 0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04 0.700 1.000 7 2009 2015
dbSNP: rs1341894581
rs1341894581
ECEL1
3 0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 0.700 1.000 5 2013 2015
dbSNP: rs368313959
rs368313959
OTUD6B
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs121434407
rs121434407
GLE1 ; LOC101929270
5 0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 0.700 1.000 7 1985 2017
dbSNP: rs775736341
rs775736341
SPART
2 0.925 0.080 13 36335466 frameshift variant AT/- del 6.8E-05 9.8E-05 0.700 1.000 10 1967 2015
dbSNP: rs185142838
rs185142838
ERCC6
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 7 1992 2016
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 7 1998 2016
dbSNP: rs137853229
rs137853229
RECQL4
5 0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 0.700 1.000 5 2006 2015
dbSNP: rs80338677
rs80338677
MAN2B1
4 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 0.700 1.000 6 1981 2015
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 1.000 7 2006 2015
dbSNP: rs140583554
rs140583554
OSGEP
2 0.925 14 20452066 missense variant C/T snv 2.4E-05 7.7E-05 0.700 1.000 2 2017 2017
dbSNP: rs148234606
rs148234606
SLC52A2
4 0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 0.700 1.000 3 2012 2016