USP40, ubiquitin specific peptidase 40, 55230

N. diseases: 5; N. variants: 15
Disease: Bilirubin measurement ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6704644
rs6704644 		2 233498009 intron variant G/T snv 9.2E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 2 2009 2011
dbSNP: rs10929178
rs10929178 		2 233487920 3 prime UTR variant G/C;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11675858
rs11675858 		2 233531407 intron variant G/A;C snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11676524
rs11676524 		2 233552322 intron variant A/T snv 0.13
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11683101
rs11683101 		2 233490079 intron variant T/C snv 2.3E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11686188
rs11686188 		2 233542984 intron variant G/A snv 0.12
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12472244
rs12472244 		2 233558197 intron variant A/G snv 0.19
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs13385018
rs13385018 		2 233547610 intron variant C/T snv 2.1E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3796090
rs3796090 		2 233481956 intron variant T/C snv 0.19
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3796092
rs3796092 		2 233481823 intron variant C/A snv 0.13
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4047189
rs4047189 		2 233534303 intron variant G/T snv 0.13
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4047198
rs4047198 		2 233546254 non coding transcript exon variant C/A;G snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs6746234
rs6746234 		2 233524435 intron variant G/A snv 0.13
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009