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: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs11575542
rs11575542
DDC ; FIGNL1
1 7 50463289 missense variant C/T snv 2.3E-02 5.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1564858
rs1564858
TNFRSF11B
1 8 118932927 splice region variant G/A snv 0.11 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs495392
rs495392
KL
2 1.000 0.040 13 33018055 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs5854292
rs5854292
EGFEM1P
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
dbSNP: rs10178409
rs10178409 		2 1.000 0.080 2 73628380 downstream gene variant G/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1020120
rs1020120
LOC102724036
2 1.000 0.080 9 84611173 intron variant C/T snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs102274
rs102274
TMEM258
3 1.000 0.080 11 61790354 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs1066621
rs1066621 		2 1.000 0.080 3 191708066 regulatory region variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
3 1.000 0.080 14 67509105 intron variant A/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs112201728
rs112201728
SLC22A1
2 1.000 0.080 6 160130454 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs112329286
rs112329286
SYNE2
4 1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11320420
rs11320420
MYRF ; TMEM258
2 1.000 0.080 11 61774535 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11662622
rs11662622 		2 1.000 0.080 18 65592400 intergenic variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1171614
rs1171614
SLC16A9
7 0.882 0.200 10 59709780 5 prime UTR variant T/C snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs1171616
rs1171616
SLC16A9
6 0.882 0.200 10 59708831 intron variant G/T snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs117935223
rs117935223
PRODH
2 1.000 0.080 22 18923820 non coding transcript exon variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs12134854
rs12134854
SLC44A5
2 1.000 0.080 1 75671921 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs12194000
rs12194000
SLC22A16
2 1.000 0.080 6 110454809 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1242780
rs1242780
PTPRN2
2 1.000 0.080 7 157757146 intron variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs12634709
rs12634709
LOC105377110
2 1.000 0.080 3 59603270 intron variant G/T snv 0.23 0.700 1.000 1 2018 2018