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: rs1896995
rs1896995
REEP3 ; LOC105378329
2 10 63605625 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs192022
rs192022
C11orf65
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1977081
rs1977081
PNPLA3
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2070667
rs2070667
APOC3
2 1.000 0.040 11 116830953 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs210135
rs210135
BAK1 ; GGNBP1
1 6 33572915 3 prime UTR variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs210157
rs210157
GGNBP1
1 6 33551223 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs216191
rs216191
SMG6
1 17 2285345 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2208368
rs2208368
DNM3
1 1 171923265 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2251250
rs2251250
ATP4A
1 19 35552195 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2283847
rs2283847
MN1
7 22 27785411 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2331174
rs2331174
PURB
1 7 44887228 upstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2360742
rs2360742
SLC44A2
1 19 10629898 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2518683
rs2518683
EWSR1
1 22 29299939 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2523673
rs2523673
HCP5
1 6 31469218 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2546979
rs2546979 		1 5 160168605 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs28372734
rs28372734
TINF2
1 14 24242592 5 prime UTR variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2862064
rs2862064 		1 5 157018816 intergenic variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs28634651
rs28634651
ZFPM1
1 16 88486790 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2958137
rs2958137
HSD17B6
2 12 56757545 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3060245
rs3060245
GSE1
1 16 85672811 3 prime UTR variant TTTCTTA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs3123543
rs3123543
ATF3
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs34603233
rs34603233
ITGA2B
2 17 44377655 intron variant AGCCCCTGG/-;AGCCCCTGGAGCCCCTGG delins 0.700 1.000 1 2016 2016
dbSNP: rs34660448
rs34660448
TPM3
1 1 154185373 intron variant AAAAAAAAAA/-;AAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs35115423
rs35115423 		1 9 124425950 intergenic variant GT/- delins 0.700 1.000 1 2016 2016