Table 1.

Comparison of BANK1 and BLK variants found in SLE patients

	MAFa	Type	AA change	CADD	HC with allele (n)	SLE with allele (n)
BLK
GWAS SNPs
rs2248932	0.61	Intron	N/A	N/A	–	–
rs13277113	0.25	Intron	N/A	N/A	–	–
rs2736340	0.25	Intron	N/A	N/A	–	–
NRLF SNPs
rs55758736	0.01	Missense	A71T	5.86	1	7
rs73663163	0.0005	Missense	R131W	14.93	0	1
rs144615291	0.00004	Missense	R131Q	16.05	0	1 (n = 1 hom)
rs141865425	0.003	Missense	R238Q	22.2	2	3
N/A	Novel	Missense	P307R	21.8	0	1
rs77401687	0.002	Missense	K325T	18.18	0	1
rs758750492	0.000004	Missense	Y350H	15.7	0	2
rs146505280	0.0008	Missense	R359C	20.1	1	1
N/A	Novel	Missense	R433Q	17.35	0	1
rs202162624	0.002	Missense	R450H	18.23	0	2
BANK1
GWAS SNPs
rs10516487	0.26	Missense	R61H	13.9	56 (n = 26 hom)	59 (n = 9 hom)
NRLF SNPs
rs35978636	0.01	Missense	W40C	29.8	6	10
rs201960198	0.0001	Missense	D400G	27.4	0	1

^aMinor allelic frequency by gnomAD

GWAS  genome wide association study, NRLF  novel, rare and low-frequency, Hom homozygous, HC healthy control, SLE systemic lupus erythematosus