Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2896019
rs2896019
PNPLA3
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.710 1.000 1 2012 2018
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 1.000 2 2010 2011
dbSNP: rs1553403917
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 1.000 1 2018 2018
dbSNP: rs17007417
rs17007417 		0.882 0.080 2 71808541 regulatory region variant T/C snv 0.85
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 1.000 1 2018 2018
dbSNP: rs2143571
rs2143571
SAMM50
0.827 0.080 22 43995806 intron variant G/A snv 0.25
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 1.000 1 2018 2018
dbSNP: rs1014959895
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 0