TABLE 2.

Disease‐related SNP analysis in GPCRs

GPCR	dbSNP rs# cluster id	dbSNP allele change	Protein residue change	Amino acid pos	Accession disease names	References
ADGRG2 (GPR64) Xp22.13	rs879255540	‐>T	Glu [E]>*	516	Congenital bilateral absence of vas deferens	Patat et al. (2016)
		G > A	Cys [C] > Tyr [Y]	570	Congenital bilateral absence of vas deferens	Yang et al. (2017)
	rs879255539	CTGTG > AGA	Leu [L] > Arg [R]	668	Congenital bilateral absence of vas deferens	Patat et al. (2016)
		C > T	p.Arg [R]>*	814	Obstructive azoospermia	Khan et al. (2018)
		A > T	p.Lys [K]>*	818	Congenital absence of vas deferens	Yuan et al. (2019)
	rs879255538	T>‐	Cys [C] > Ala [A]	949	Congenital bilateral absence of vas deferens	Patat et al. (2016)
		A > G	p.Lys [K] > Glu [E]	990	Congenital bilateral absence of vas deferens	Yang et al. (2017)
		G > A	p.Arg [R] > Gln [Q]	1008	Congenital absence of vas deferens	Yuan et al. (2019)
AT2 receptorXq23	rs121917810	G > T	Gly [G] > Val [V]	21	X‐linked mental retardation	Vervoort et al. (2002), Bienvenu, (2003), and Ylisaukko‐oja et al. (2004)
		T>‐	Phe [F] > Leu [L]	134	Not specified	Piton, Redin, & Mandel, (2013)
	rs5191	G > A	Arg [R] > Lys [K]	248	Not specified	Bean, Tinker, da Silva, & Hegde, (2013) and Wang et al. (2006)
LGR4 (GPR48) 11p14.1	rs587777005	C > T	Arg [R]>*	126	Low bone mineral density	Styrkarsdottir et al. (2013)