Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs13063628

Hard Link
rs13063628 is a snp on gene THRB (thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian))

GeneTHRB Chromosome number 3 Chromosome position 24127490
Alleles C/T Minor Allele T Minor Allele Frequency 0.0629
Notation -in9 1144+9G>A Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Intron variant.
Gene Function
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs4880 (SOD2) | rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2844682 (MUC21) | rs2569191 (CD14) | rs6025 (F5) | rs4680 (COMT) | rs20541 (IL13) | rs1801181 (CBS) | rs2075252 (LRP2) | rs2476601 (PTPN22)








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