. 2022 Sep 11;50(6):701–710. doi: 10.1007/s00240-022-01360-z

Table 2.

Some details of the variants under study

Gene	dbSNP	Nucleotide variation	Amino acid variation	Global MAF (%)
TRPV5	rs4236480	c.461A>G	p.H154R	T = 32.7 (ALFA project) T = 40.5 (HapMap)
CASR	rs1801725	c.2473G>T	p.A986S	T = 14.3 (ALFA project) T = 7.3 (HapMap) T = 9.4 (1000 Genomes project)
CALCR	rs1801197	c.1340T>C	p.L447P	G = 29.7 (ALFA project) A = 42.6 (HapMap) A = 45.6 (1000 Genomes project)

Gene

dbSNP

Nucleotide variation

Amino acid variation

Global MAF (%)

TRPV5

rs4236480

c.461A>G

p.H154R

T = 32.7 (ALFA project)

T = 40.5 (HapMap)

CASR

rs1801725

c.2473G>T

p.A986S

T = 14.3 (ALFA project)

T = 7.3 (HapMap)

T = 9.4 (1000 Genomes project)

CALCR

rs1801197

c.1340T>C

p.L447P

G = 29.7 (ALFA project)

A = 42.6 (HapMap)

A = 45.6 (1000 Genomes project)