8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness

Table 2 Association of known RCC germline variants with RCC subtypes. Subtypes were defined molecularly based on individual acquired alterations, by mRNA molecular subtype (ccA/ccB) or clinically (Mayo SSIGN score).

RS ID	Chrom	REF	ALT	OR.bap1	P.bap1	OR.pbrm1	P.pbrm1	OR.setd2	P.setd2	OR.vhl	P.vhl	OR.ccAccB	P.ccAccB	OR.SSIGNcat	P.SSIGNcat
rs4381241	1	T	C	0.92	0.74	0.92	0.59	0.94	0.77	0.92	0.59	0.95	0.72	1.10	0.61
rs7579899	2	A	G	0.95	0.85	1.02	0.92	1.87	0.012	0.99	0.93	1.12	0.45	0.95	0.79
rs12105918	2	T	C	2.05	0.05	0.66	0.16	0.58	0.23	1.36	0.23	0.86	0.57	0.84	0.58
rs67311347	3	G	A	1.29	0.33	1.00	0.98	1.04	0.88	1.17	0.33	1.02	0.90	0.89	0.57
rs10936602	3	T	C	1.22	0.49	0.77	0.18	0.73	0.26	1.11	0.54	1.15	0.43	0.96	0.8
rs2241261	8	C	T	0.96	0.88	1.03	0.84	0.89	0.60	1.26	0.12	1.07	0.66	0.84	0.32
rs35252396^a	8	A	C	1.17	0.57	0.95	0.77	0.97	0.89	1.60	0.0037	0.99	0.96	1.92	0.00094
rs35252396^a	8	C	G	1.17	0.57	0.95	0.77	0.97	0.89	1.60	0.0037	0.99	0.96	1.92	0.00094
rs11813268	10	C	T	1.15	0.64	0.85	0.42	0.54	0.06	0.88	0.50	1.02	0.93	1.14	0.54
rs7105934	11	G	A	0.32	0.27	0.96	0.92	0.46	0.29	0.72	0.40	0.56	0.13	0.66	0.41
rs1800057	11	C	G	1.68	0.44	1.64	0.29	0.47	0.39	0.92	0.86	1.34	0.53	0.66	0.51
rs74911261	11	G	A	2.21	0.25	1.13	0.82	0.31	0.31	0.49	0.21	1.29	0.63	0.76	0.68
rs718314	12	A	G	1.05	0.86	0.93	0.67	0.89	0.65	1.11	0.55	0.94	0.72	1.07	0.74
rs4765623	12	C	T	1.13	0.65	0.99	0.94	0.64	0.07	1.08	0.63	0.92	0.60	0.95	0.77
rs4903064	14	T	C	1.35	0.25	0.90	0.55	1.19	0.45	1.06	0.72	1.04	0.83	0.96	0.82

Chrom denotes chromosome location, OR denotes odds ratio and p value is from a logistic regression model. Cells highlighted in italics denote associations that pass our multiple testing threshold (p value < (0.05/14 = 0.004). Cells highlighted in bold denote candidate associations (0.004 < p value < 0.05)
^ars35252396 is tri-allelic

ISSN: 1471-2490