Table 1

Scored polymorphisms of LHB and LHCGR.

Gene

Designation

dbSNP reference ID

Location

Type


LHB

lhb1

rs3956233

Intron 1

Intronic SNP

lhb2

rs4002462

Intron 1

Intronic SNP

*

rs5030775a

Exon 2 (signal peptide)

Non-synonymous SNP

lhb3

rs1800447

Exon 2 (vLH SNP 1)

Non-synonymous SNP

**

(rs1800447)b

Exon 2 (vLH SNP 2)

Non-synonymous SNP

lhb4

rs6521

Exon 2

Synonymous SNP

lhb5

rs1056914

Exon 2

Synonymous SNP

lhb6

rs2387588

Intron 2

Intronic SNP

lhb7

rs4287687

Intron 2

Intronic SNP

LHR

lhcgr1

rs4539842

Exon 1

6 base insertion/deletion

lhcgr2

rs4073366

Intron 1

Intronic SNP

lhcgr3

rs12470652

Exon 10

Non-synonymous SNP

lhcgr4

rs2293275

Exon 10

Non-synonymous SNP

lhcgr5

rs13006488

Exon 11

Synonymous SNP


ars5030775 not included in analyses, as it was invariant in our cohort

bsecond vLH position not included in analyses since it is in complete linkage disequilibrium with lhb3

Haasl et al. BMC Medical Genetics 2008 9:37   doi:10.1186/1471-2350-9-37

Open Data