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. 2022 Mar 22;13:791920. doi: 10.3389/fgene.2022.791920

TABLE 5.

The annotations of the significant identified SNPs.

SNPs Chr Position (GRCh38) Alleles (alt/Ref) Gene (nearest) Feature Expression genes Reported (yes/No) Reported phenotypes GWAS references
rs17017947 3 276171 A/C CHL1 Intron No
rs41470552 10 102222133 T/G PITX3 Intergenic No
rs1945647 11 81602715 C/T MTND6P25 Intergenic GNAI2,STK40,LIMK1,LIG4, HLTF,ZNF511,CBLL1,NUDT17, POLR3C,DAGLB,KDELR2,NUP93, PRCC,C16orf80,RAB33B,LRP8 No
rs7927943 11 81637194 C/T MTND6P25 Intergenic WSCD2,GNAI2,ZFHX3,NUP93, FAM60A,LIMK1,MAP4, FLJ31958,LIG4,HLTF No
rs8050136 16 53782363 C/A FTO Intron HES7,LATS2 Yes BMI, T2D, Adiposity PMID:18372903
PMID:31217584
PMID:19079260
rs9939609 16 53786615 T/A FTO Intron CR1,CR1L,ZNRF1,ANKRD50, LATS2,TSPYL4,HES7 Yes BMI, T2D PMID:17434869
PMID:31217584
PMID:17554300
rs1570004 20 35370450 A/T UQCC Intron Yes Height PMID:18193045
rs201561 20 22018575 G/C RPL41P1 Intergenic P2RX3,EHD4 Yes Balding type 1 PMID:30595370

Annotations are from Ensemble website (https://asia.ensembl.org) and SCAN website (http://scandb.org); intron denotes the SNP is located between exons; intergenic denotes the SNP is located between genes. Expression genes denote annotations added after analysis of transcriptional levels of eQTL in cell lines from HapMap CEU and YRI samples using Affymetrix human exon 1.0 ST array; GWAS references indicate the identifications of PubMed. SNP, single-nucleotide polymorphism; GWAS, genome-wide association study; eQTL, expression quantitative trait locus.