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: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749231 intron variant T/A snv 0.37
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749231 intron variant T/A snv 0.37
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2009 2012
dbSNP: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749231 intron variant T/A snv 0.37
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.700 1.000 1 2015 2015
dbSNP: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749231 intron variant T/A snv 0.37
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749337 intron variant T/C snv 0.49
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 5 2009 2015
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749337 intron variant T/C snv 0.49
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 4 2009 2013
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749337 intron variant T/C snv 0.49
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
2 233749337 intron variant T/C snv 0.49
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.700 1.000 1 2015 2015
dbSNP: rs1042640
rs1042640
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
1.000 0.080 2 233772898 3 prime UTR variant G/A;C;T snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1042640
rs1042640
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
1.000 0.080 2 233772898 3 prime UTR variant G/A;C;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1054804
rs1054804
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233754399 non coding transcript exon variant C/T snv 3.5E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1054804
rs1054804
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233754399 non coding transcript exon variant C/T snv 3.5E-02
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233755003 splice region variant C/G;T snv 0.48
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233755003 splice region variant C/G;T snv 0.48
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2009 2012
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233755003 splice region variant C/G;T snv 0.48
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233755003 splice region variant C/G;T snv 0.48
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.700 1.000 1 2015 2015
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233757136 intron variant G/A snv 0.30
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 2 2012 2015
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233757136 intron variant G/A snv 0.30
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.700 1.000 1 2015 2015
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233757136 intron variant G/A snv 0.30
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233757136 intron variant G/A snv 0.30
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2012 2012
dbSNP: rs10929303
rs10929303
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
1.000 0.080 2 233772770 3 prime UTR variant T/C snv 0.74
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs10929303
rs10929303
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
1.000 0.080 2 233772770 3 prime UTR variant T/C snv 0.74
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs111033539
rs111033539
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767160 stop gained C/T snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs111033541
rs111033541
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760331 missense variant T/G snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.800 1.000 16 1993 2013
dbSNP: rs111741722
rs111741722
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
2 233757337 intron variant A/G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018