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: 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: rs1015003
rs1015003 		1 8 37238541 intergenic variant G/T snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs1015451
rs1015451
LOC105377979
1 6 121810339 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs10517800
rs10517800
MARCHF1
1 4 164174438 intron variant C/A;T snv 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: rs11065706
rs11065706
PPP1CC
1 12 110717726 downstream gene variant T/C snv 0.19 0.800 1.000 1 2013 2013
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: rs11153730
rs11153730 		4 6 118346359 intergenic variant T/C snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs1120384
rs1120384
MARCHF1
1 4 164161744 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11578508
rs11578508 		1 1 207955720 upstream gene variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs11645781
rs11645781
RBFOX1
1 16 6846127 intron variant A/C;G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11930019
rs11930019
MARCHF1
1 4 164159224 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11931264
rs11931264
MARCHF1
1 4 164160251 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11943491
rs11943491
MARCHF1
1 4 164159378 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs11968176
rs11968176
CEP85L ; LOC107986524
1 6 118579777 intron variant C/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs12110693
rs12110693
LOC105377979
2 6 121837124 intergenic variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs12531027
rs12531027
AGMO
2 7 15296311 intron variant T/C snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs12731740
rs12731740
MIR29B2CHG
2 1 207851475 intron variant C/T snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs13030174
rs13030174 		1 2 231406573 regulatory region variant A/C snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs13080668
rs13080668
CACNA1D
1 3 53409327 intron variant T/A;C snv 0.25 0.700 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: rs1368578
rs1368578
NAP1L1
2 12 76083176 intron variant A/G;T snv 0.700 1.000 1 2012 2012