Table 1.

Genes associated with blood lipids identified in this study

Gene	Name	Trait	N	cMAC	nVAR	β	SE	p	Mask	Test	Ancestry	UKBB replication	PMBB replication
ALB	albumin	LDL-C	165,003	51	18	29.51	5.11	7.76 × 10−9	LOF	burden	multi-ancestry	<0.005	N/A
ALB	albumin	non-HDL-C	166,327	50	17	33.91	6.07	2.27 × 10−8	LOF	burden	multi-ancestry	N/A	N/A
ALB	albumin	TC	172,103	54	18	33.37	5.89	1.48 × 10−8	LOF	burden	multi-ancestry	N/A	N/A
SRSF2	serine and arginine rich splicing factor 2	TC	172,103	59	14	−30.59	5.49	2.46 × 10−8	LOF/DAM5of5/SPLICE AI	burden	multi-ancestry	N/A	<0.005
JAK2	janus kinase 2	TC	975,33	441	136	−7.10	1.98	1.71 × 10−7	LOF/DAM5of5/SPLICE AI	SKAT	EUR	<0.05	<0.05
CREB3L3	camp responsive element binding protein 3 like 3	TG	170,239	874	71	0.12	0.02	2.43 × 10−15	LOF/DAM5of5/SPLICE AI	burden	multi-ancestry	<0.005	<0.005
CREB3L3	camp responsive element binding protein 3 like 3	TG/HDL-C	165,380	855	69	0.14	0.02	5.76 × 10−13	LOF/DAM5of5/SPLICE AI	burden	multi-ancestry	N/A	N/A
TMEM136	transmembrane protein 136	TG	29,571	157	24	−0.15	0.04	3.39 × 10−9	LOF/DAM5of5/SPLICE AI	SKAT	SAS	N/A	N/A
TMEM136	transmembrane protein 136	TG/HDL-C	29,517	157	24	−0.20	0.05	1.76 × 10−11	LOF/DAM5of5/SPLICE AI	SKAT	SAS	N/A	N/A
VARS	valyl-trna synthetase 1	TG	56,140	67	51	0.32	0.06	4.30 × 10−7	LOF/MetaSVM	burden	EUR	N/A	N/A
NR1H3	nuclear receptor subfamily 1 group h member 3	HDL-C	93,044	521	111	3.47	0.60	1.45 × 10−11	LOF/MetaSVM/SPLICE AI	SKAT	EUR	<0.005	<0.05
PLA2G12A	phospholipase a2 group xiia	HDL-C	166,441	1,975	47	−2.28	0.31	8.12 × 10−14	LOF/DAM5of5	burden	multi-ancestry	<0.005	<0.005
PLA2G12A	phospholipase a2 group xiia	TG	170,239	2,047	47	0.06	0.01	1.17 × 10−8	LOF/DAM5of5	burden	multi-ancestry	N/A	N/A
PLA2G12A	phospholipase a2 group xiia	TG/HDL-C	165,380	1,969	46	0.11	0.01	7.56 × 10−13	LOF/DAM5of5	burden	multi-ancestry	N/A	N/A
PPARG	peroxisome proliferator activated receptor gamma	HDL-C	166,441	147	72	−6.24	1.07	4.71 × 10−9	LOF/DAM5of5/SPLICE AI	burden	multi-ancestry	<0.005	<0.005
STAB1	stabilin 1	HDL-C	166,441	6,550	804	0.83	0.16	2.58 × 10−7	LOF/MetaSVM/SPLICE AI	burden	multi-ancestry	<0.005	N/A

cMAC, cumulative minor allele count; nVAR, number of variants in test; EUR, European ancestry; SAS, South Asian ancestry; N/A, not applicable.