UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

BMC Medical Genetics

Table 2 Sequence variants observed in UGT1A1.

dbSNP no.	* Allele/SNP alias	Chr. pos.	Major allele	Minor allele	MAF
rs11568318	*89	234330237	C	A	0.02
rs4124874	*60	234330398	T	G	0.40
rs11568319	*91	234330500	C	G	0.01
rs11568317	*92	234330502	A	G	0.01
-	-3162	234330515	G	C	0.01
rs10929302	*93	234330521	G	A	0.29
-	-136	234333537	C	T	0.01
rs873478	*81	234333609	G	C	0.01
rs34815109	*28/(TA) rpt	234333620	6	7	0.32
rs4148323	*6	234333883	G	A	0.01
-	+341	234334012	A	G	0.01
-	+449	234334120	C	T	0.01
-	+540	234334211	A	G	0.01
rs6708136	-	234340306	C	T	0.03
rs28946890	-	234341112	T	C	0.01
rs34082659	-	234341148	C	T	0.02
rs2302538	66/88	234341152	T	C	0.10
rs12471326	-	234341197	T	C	0.04
-	+12724	234341376	A	G	0.01
rs10929303	*76	234346155	C	T	0.19
rs1042640	*78	234346283	C	G	0.17
rs8330	*79	234346384	C	G	0.21
-	+17781	234346539	G	T	0.01
rs17862880	-	234346795	C	A	0.10
rs4148329	-	234346801	C	T	0.65*
-	+18162	234346815	A	G	0.01

Chromosome position (Chr. pos.), dbSNP numbers, and minor allele are referenced to dbSNP build 129. Where there was no previous description for an allele, the approximate SNP position referenced from the ATG start site was used. Approximate minor allele frequencies (MAF) are given in the final column with alleles of MAF ≥ 0.10 used for subsequent association study given in bold. * - dbSNP minor allele given as T; in our sample the C allele was more common.

ISSN: 1471-2350