Table 1.

Genotyped SNPs

Gene
SNP
Location and nucleotide change
A. SNPs genotyped in the initial screen of genetic variation in growth pathway genes*
GH1rs6171−67A>G
rs6173Ex1-14T>G
GHRrs2940927−143587G>A
rs1876790−143121T>C
rs7735889IVS-3767A>G
rs6179Ex6-61G>A G186G
rs6182Ex10+374G>T C440F
rs6180Ex10+685A>C I544L
rs6184Ex10+790 P579TC>A
DOCK5rs2709618Ex20+8G>A P726P
GNRH1rs6185Ex1-95G>C W16S
KCTD9rs1812594Ex12+93A>G L382L
GNRHRrs13138607Ex1+255C>T
rs4986942Ex1-70C>T S151S
rs10031252IVS1+1241T>A
rs3822196IVS1-429T>C
rs3796718IVS1-2676A>G
rs18435937,199 bp 3′ of STP A>G
rs263048810,829 bp 3′ of STP C>T
IGF1rs2162679IVS1-1682 A>G
rs1019731IVS2+4996G>T
rs2288378IVS2-16540G>A
rs6220Ex4+1830A>G
IGF1Rrs907806IVS2-89673A>G
rs9282718IVS2+61306T>G
rs2137680IVS2+61405A>G
rs2175795IVS2+61518A>G
rs3743258IVS5+289G>A
rs3743259IVS5+311A>G
rs2272037IVS7-20C>T
rs2229765Ex16-58G>A
rs20163473,128 bp 3′ of STP T>G
rs92827153,164 bp 3′ of STP T>C
IGF2rs3213216IVS1+1280G>A
rs3213221IVS1-285G>C
rs3213223IVS1-171C>T
rs734351IVS2+384T>C
IGF2Rrs1570070Ex9+5A>G S350S
rs894817Ex12-32G>A G530G
rs998075Ex16+88G>A T713T
rs998074IVS16+15C>T
rs629849Ex34-93G>A R1619G
rs2282140IVS34+20C>T
rs1803989Ex45+11T>C L2222L
IGFBP3rs2471551IVS2-17C>G
rs9282734Ex3+70A>C H158P
rs6413441IVS4-707A/−
IGFBP5rs20670397,581 bp 3′ of STP T>A
IGFALSrs9282731Ex2-359C>T
rs2230053Ex2-435G>A
rs17559Ex2-615C>T
rs3751893Ex2+194C>T
B. Additional IGF2R SNPs genotyped that were selected based on the haplotype structure around Ex16+88G>A and IVS16+15C>T
IGF2Rrs9456497IVS4-2176A>G
rs4709390IVS7-22T>G
rs4709392IVS10-1230G>A
rs435612IVS11-244G>A
rs687088IVS12-492C>T
rs416572IVS15+213C>T
rs648253IVS17+210A>G
rs4709393IVS19+348T>G
rs3777411IVS19-511C>T
rs7746102IVS22-42T>C
rs2065396IVS30+327G>C
rs3798180IVS31+651G>A
  • * The rs number from dbSNP, genomic location, nucleotide change, and amino acid change (if applicable) are noted. SNPs in DOCK5 and KCTD9 were genotyped because they comprised the haplotype tagging SNPs for GNRH1 (see Materials and Methods).