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: rs535263906
rs535263906
CELSR1
3 1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs79661299
rs79661299 		3 1.000 0.040 6 42088268 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs220299
rs220299
UMODL1
2 21 42082652 intron variant C/T snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs826838
rs826838
CPNE8
2 12 38712929 intron variant C/T snv 0.51 0.800 1.000 1 2013 2013
dbSNP: rs6127471
rs6127471
KIAA1755
1 20 38215636 intron variant C/T snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs11034161
rs11034161
LOC105376632
1 11 37475966 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1015003
rs1015003 		1 8 37238541 intergenic variant G/T snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs236352
rs236352
C6orf89
1 6 36849337 upstream gene variant A/G snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs236373
rs236373
CPNE5
1 6 36824281 intron variant C/T snv 0.31 0.800 1.000 1 2013 2013
dbSNP: rs9470398
rs9470398
CPNE5
3 1.000 0.040 6 36799290 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs10142635
rs10142635
EGLN3
1 14 34423401 intron variant A/G snv 3.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs7980799
rs7980799
SYT10
1 12 33424055 intron variant A/C;T snv 0.70 0.800 1.000 1 2013 2013
dbSNP: rs112434206
rs112434206 		3 1.000 0.040 5 33083283 intron variant A/C;G snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs8105292
rs8105292
LINC01782
3 1.000 0.040 19 32103916 non coding transcript exon variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs113235453
rs113235453
NUBPL
3 1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs541284506
rs541284506 		3 1.000 0.040 5 30425422 intergenic variant G/A snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs61945053
rs61945053 		3 1.000 0.040 13 27021678 upstream gene variant G/A snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs17287293
rs17287293
LOC105369698
4 1.000 0.080 12 24617944 intergenic variant A/G snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs148133894
rs148133894 		3 1.000 0.040 16 24584678 intergenic variant T/C snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs365990
rs365990
MYH6
4 1.000 0.080 14 23392602 missense variant A/G snv 0.34 0.45 0.800 1.000 2 2010 2013
dbSNP: rs13030174
rs13030174 		1 2 231406573 regulatory region variant A/C snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs11578508
rs11578508 		1 1 207955720 upstream gene variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs12731740
rs12731740
MIR29B2CHG
2 1 207851475 intron variant C/T snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs11118555
rs11118555
CD46
1 1 207767508 non coding transcript exon variant T/A snv 9.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs74056624
rs74056624 		3 1.000 0.040 1 18790006 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2019 2019