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: rs991427
rs991427 		2 12 91080645 intergenic variant C/G;T snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10143078
rs10143078
COX16 ; SYNJ2BP ; SYNJ2BP-COX16
2 14 70414772 intron variant A/C snv 6.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs12195230
rs12195230
KLHL32
2 6 97052171 intron variant G/C snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs13390641
rs13390641 		3 2 103419975 intergenic variant G/A snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs1421811
rs1421811
NPR3
2 5 32714164 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2196122
rs2196122
MMP26
2 11 4864318 intron variant G/C snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs4842666
rs4842666 		3 12 89547772 non coding transcript exon variant T/C snv 0.16 0.700 1.000 1 2014 2014
dbSNP: rs6782531
rs6782531
FHIT
2 3 61009928 intron variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 3 2011 2015
dbSNP: rs1033284
rs1033284
LRP1B
1 2 141164219 intron variant G/A snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10745332
rs10745332
CAPZA1
3 1 112646431 intron variant G/A snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs10931896
rs10931896 		1 2 200283353 intergenic variant C/T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs11067763
rs11067763
LOC105370003
3 12 115760536 intron variant A/G snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs11589828
rs11589828
SIPA1L2
1 1 232533526 intron variant T/A snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs11679072
rs11679072 		1 2 239522525 intron variant C/A snv 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs12149862
rs12149862
CYB5B
1 16 69463300 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs12634933
rs12634933
MECOM
1 3 169312191 intron variant A/G snv 8.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs12705959
rs12705959
FOXP2
2 7 114358191 intron variant C/T snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs13143871
rs13143871
GUCY1A1
3 4 155698052 intron variant T/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs133980
rs133980 		2 22 27626764 intergenic variant A/G snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs17484474
rs17484474
PRKG2
1 4 81204967 synonymous variant C/G snv 2.4E-02 2.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2021783
rs2021783
TNXB
3 6 32077074 intron variant C/T snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs2268365
rs2268365
LRP2
1 2 169237659 intron variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs2286379
rs2286379
CACNA2D4
1 12 1792998 3 prime UTR variant C/T snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs2297585
rs2297585
LINC00327
1 13 23470205 intron variant G/T snv 0.11 0.700 1.000 1 2015 2015