Table 1.

A summary of the SNP alleles and associated bone phenotypes as studied to date in humans. The alleles are given in parenthesis after the SNP number with the major allele in the study population listed first. For SNP rs2960422 (∗) no allele frequency in this population was reported by the authors. SNPs rs11512999, rs709150, and rs1175544 (∗∗) showed no association with either BMD or BUA when analyzed separately, but an association with BMD was found for the haplotype of rs11512999 (A), rs709150 (C), and rs1175544 (C) in women.

SNP	Allele	Study population	Phenotype	Reference
His477His	C/T or T/T	Postmenopausal	Increased total	[26]
(rs3856806, C > T)		Japanese women	body BMD
His477His	any	Pre-and Postmenopausal	No association	[27]
(rs3856806, C > T)		Korean women	with BMD
rs2960422∗	A/G	Men and women in	Increased risk for low	[28]
		mainland China	BMD in premenopausal women only
rs1805192 (C > G)	C/C	Caucasian men and women	Site-specific higher BMD in	[29]
			females and lower in males
rs4684848 (G > A)	any	Caucasian men and women	No association with BMD	[29]
rs1151999 (A > C),	A, C, and C	Caucasian men and women	Site-specific	[29]
rs709150 (C > G) and	alleles inherited		lower BMD in
rs1175544 (C > T) ∗∗	as a block only		women
rs1152004 (T > C)	any	Caucasian men and women	No association with BMD	[29]
rs1175381 (T > C)	T/C or C/C	Caucasian men and women	Site-specific lower BMD in women	[29]
rs1186464 (A > G)	any	Caucasian men and women	No association with BMD	[29]