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: rs452036
rs452036
MYH6
3 14 23396676 intron variant G/A;C snv 0.33 0.800 1.000 2 2010 2013
dbSNP: rs11154022
rs11154022 		1 6 121427396 intergenic variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12666989
rs12666989
SRRT ; UFSP1
1 7 100889133 missense variant G/C snv 0.15 0.13 0.800 1.000 1 2010 2010
dbSNP: rs17287293
rs17287293
LOC105369698
4 1.000 0.080 12 24617944 intergenic variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.800 1.000 1 2010 2010
dbSNP: rs17617068
rs17617068
MAML1
1 5 179741096 intron variant T/C snv 0.23 0.800 1.000 1 2014 2014
dbSNP: rs223116
rs223116
NGDN
1 14 23507801 intron variant A/G snv 0.57 0.800 1.000 1 2010 2010
dbSNP: rs2745967
rs2745967 		1 1 207955377 upstream gene variant G/A snv 0.60 0.800 1.000 1 2010 2010
dbSNP: rs281868
rs281868
SLC35F1
2 1.000 0.080 6 118252898 intron variant G/A snv 0.46 0.800 1.000 1 2010 2010
dbSNP: rs314370
rs314370
SLC12A9
1 7 100855586 non coding transcript exon variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs6893300
rs6893300
CANX
1 5 179708814 intron variant C/A snv 0.24 0.800 1.000 1 2014 2014
dbSNP: rs9320841
rs9320841
LOC105377979
1 6 121793305 intergenic variant A/G snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs9398652
rs9398652
LOC105377979
1 6 121824888 intergenic variant C/A snv 0.23 0.800 1.000 1 2010 2010
dbSNP: rs10497529
rs10497529
CCDC141
1 2 178975161 missense variant G/A snv 3.0E-02 2.6E-02 0.700 1.000 2 2016 2018
dbSNP: rs10841486
rs10841486 		1 12 20319268 intergenic variant T/C snv 0.18 0.700 1.000 2 2016 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2016 2018
dbSNP: rs13002735
rs13002735 		1 2 231404173 downstream gene variant A/C snv 0.22 0.700 1.000 2 2016 2018
dbSNP: rs1320761
rs1320761
LOC105377979
1 6 121846992 intergenic variant C/T snv 0.23 0.700 1.000 2 2016 2018
dbSNP: rs17180489
rs17180489
RGS6 ; LOC105370559
2 14 72418763 intron variant G/C snv 0.10 0.700 1.000 2 2016 2018
dbSNP: rs17201923
rs17201923 		1 14 85330220 intergenic variant A/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs174536
rs174536
MYRF ; TMEM258
3 11 61784455 non coding transcript exon variant A/C snv 0.29 0.700 1.000 2 2016 2018
dbSNP: rs17881696
rs17881696
ACHE
1 7 100895738 intron variant G/A snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs180239
rs180239
GNG11 ; LOC105375402
1 7 93921103 upstream gene variant G/C snv 0.60 0.700 1.000 2 2016 2018
dbSNP: rs1994135
rs1994135 		1 12 33529470 intergenic variant T/C snv 0.37 0.700 1.000 2 2016 2018
dbSNP: rs2283274
rs2283274
CACNA1C
1 12 2075300 intron variant G/C snv 0.21 0.700 1.000 2 2016 2018