Source: BEFREE

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: rs1341929358
rs1341929358
NR1I3 ; TOMM40L
1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2009 2009
dbSNP: rs2307424
rs2307424
NR1I3
1.000 0.080 1 161232815 synonymous variant G/A snv 0.35 0.29
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.010 1.000 1 2015 2015
dbSNP: rs4073054
rs4073054
NR1I3 ; TOMM40L
1.000 0.080 1 161230697 3 prime UTR variant C/A;G;T snv
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.010 1.000 1 2015 2015