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: rs649964
rs649964
KL
3 13 33061698 missense variant T/A;C snv 8.0E-06; 0.99 0.700 1.000 1 2012 2012
dbSNP: rs4838544
rs4838544
CHAT
2 10 49648606 missense variant G/A;T snv 0.99; 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.800 1.000 3 2012 2017
dbSNP: rs629001
rs629001
MYBPHL
3 1 109296296 missense variant C/G;T snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.700 1.000 1 2018 2018
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.700 1.000 1 2012 2012
dbSNP: rs6557781
rs6557781
DMTN
2 8 22080156 intron variant T/A;C snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
3 1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80 0.700 1.000 2 2017 2018
dbSNP: rs2642438
rs2642438
MTARC1
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 4 2017 2019
dbSNP: rs28555129
rs28555129
MLYCD ; OSGIN1 ; LOC105371371
1 16 83951171 missense variant A/C;T snv 6.5E-06; 1.9E-05; 6.5E-06; 0.71 0.70 0.700 1.000 1 2018 2018
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 2 2012 2018
dbSNP: rs1553318
rs1553318
HAVCR1
3 5 157052312 intron variant G/A;C snv 6.2E-03; 0.67 0.700 1.000 2 2015 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2012 2018
dbSNP: rs2992753
rs2992753
KLHDC7A
1 1 18481798 missense variant C/A snv 0.67 0.66 0.700 1.000 1 2018 2018
dbSNP: rs10128711
rs10128711
SPTY2D1
2 11 18611437 intron variant T/C snv 0.64 0.55 0.700 1.000 1 2018 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 3 2018 2019
dbSNP: rs5930
rs5930
LDLR ; MIR6886
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.700 1.000 1 2012 2012
dbSNP: rs2183573
rs2183573
BRWD1
2 21 39202379 missense variant A/G snv 0.63 0.61 0.700 1.000 1 2018 2018
dbSNP: rs892161
rs892161
HDGFL2
1 19 4493711 synonymous variant A/G snv 0.61 0.62 0.700 1.000 1 2018 2018
dbSNP: rs13146272
rs13146272
CYP4V2
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.700 1.000 1 2017 2017
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs871841
rs871841
ARHGEF15
2 17 8313150 missense variant T/C snv 0.56 0.58 0.700 1.000 1 2018 2018
dbSNP: rs1891110
rs1891110
FAM24B ; FAM24B-CUZD1
1 10 122850511 missense variant G/A snv 0.53 0.54 0.700 1.000 1 2017 2017
dbSNP: rs704
rs704
VTN ; SARM1
4 1.000 0.040 17 28367840 missense variant G/A snv 0.51 0.51 0.700 1.000 3 2017 2018
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.800 1.000 4 2009 2019