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: rs13030174
rs13030174 		1 2 231406573 regulatory region variant A/C snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs144303414
rs144303414 		3 1.000 0.040 18 48509413 intergenic variant A/C snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs6840738
rs6840738
MARCHF1
1 4 164156275 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11034161
rs11034161
LOC105376632
1 11 37475966 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
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: rs11645781
rs11645781
RBFOX1
1 16 6846127 intron variant A/C;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7980799
rs7980799
SYT10
1 12 33424055 intron variant A/C;T snv 0.70 0.800 1.000 1 2013 2013
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: rs10002082
rs10002082
MARCHF1
1 4 164159753 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs10142635
rs10142635
EGLN3
1 14 34423401 intron variant A/G snv 3.2E-02 0.700 1.000 1 2018 2018
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: rs11578508
rs11578508 		1 1 207955720 upstream gene variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs13245899
rs13245899 		1 7 100899511 upstream gene variant A/G snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs13413635
rs13413635
PDE11A
1 2 177815704 intron variant A/G snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs13435288
rs13435288
MARCHF1
1 4 164169729 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs139130723
rs139130723 		3 1.000 0.040 6 14411553 intergenic variant A/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1430998
rs1430998
MARCHF1
1 4 164164966 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
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: rs1835507
rs1835507
MARCHF1
1 4 164190521 intron variant A/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs236352
rs236352
C6orf89
1 6 36849337 upstream gene variant A/G snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs6942458
rs6942458
CACNA2D1
2 7 82153198 intron variant A/G snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs7461108
rs7461108 		1 8 134945091 intergenic variant A/G snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs7722600
rs7722600
LOC101928005 ; LOC107986368
1 5 137859073 non coding transcript exon variant A/G snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs1368578
rs1368578
NAP1L1
2 12 76083176 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1431001
rs1431001
MARCHF1
1 4 164164637 intron variant A/T snv 0.18 0.700 1.000 1 2018 2018