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: rs11187838
rs11187838
PLCE1 ; PLCE1-AS1
3 10 94278929 non coding transcript exon variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs11594111
rs11594111
DCLRE1C ; SUV39H2
1 10 14903407 3 prime UTR variant A/G snv 9.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs1160720
rs1160720
NBEA
1 13 35312538 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs11636768
rs11636768
LOC105370955
1 15 87152280 intergenic variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs11757063
rs11757063
UFL1-AS1
1 6 96437010 intron variant G/A snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs11777116
rs11777116
LOC107986931
1 8 24186788 intergenic variant C/A;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11874712
rs11874712
HAUS1
1 18 46108610 intron variant C/A snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs12006166
rs12006166
LOC105376235
1 9 115662708 intron variant A/T snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs12135062
rs12135062
PRDM16
1 1 3186748 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12136856
rs12136856 		1 1 156503322 upstream gene variant C/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs12260159
rs12260159
HPSE2
1 10 98942980 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs12355831
rs12355831
ZDHHC6
1 10 112442768 intron variant A/G snv 7.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1245465
rs1245465
LOC105370420
1 14 27191653 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1268083
rs1268083
LOC105377986
1 6 125727894 intron variant T/C snv 0.49 0.700 1.000 1 2016 2016
dbSNP: rs12681792
rs12681792
CLVS1
2 8 61141904 intron variant C/A snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs12681963
rs12681963
LEPROTL1
1 8 30125002 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12845494
rs12845494 		1 X 40905504 upstream gene variant C/G snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs13078967
rs13078967 		1 3 154572157 regulatory region variant A/C snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs138556413
rs138556413
WDR12 ; CARF
1 2 202968144 intron variant C/T snv 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1388271217
rs1388271217
PGR ; PGR-AS1
1 11 101128477 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs140002913
rs140002913 		1 6 32238272 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs140325655
rs140325655
KCNK18
1 10 117201263 missense variant T/C snv 6.4E-03 6.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs140668749
rs140668749 		1 12 4419506 intergenic variant C/- delins 0.44 0.700 1.000 1 2016 2016
dbSNP: rs142077957
rs142077957
PGR ; PGR-AS1
1 11 101127985 synonymous variant C/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs144017103
rs144017103 		1 20 32041179 intergenic variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016