Lurp

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


rs5853517

Hard Link
rs5853517 is a snp on gene P2RY12 (purinergic receptor P2Y, G-protein coupled, 12)

GeneP2RY12 Chromosome number 3 Chromosome position 151339797
Alleles -/T Minor Allele T Minor Allele Frequency 0.132
Notation delT, ins801A Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Indel.
Gene Function
The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs151264360 (ENOSF1) | rs5742904 (APOB) | rs5853517 (MED12L) | rs2046934 (MED12L) | rs9275572 () | rs4349859 (LOC101929072) | Rs1801131 (MTHFR) | i5000294 (GIF) | rs35829419 (NLRP3) | rs2472553 (CHRNA2) | rs3811450 (CHRNB2)

MOST FREQUENTLY SEARCHED:
rs1799941 (SHBG) | rs9939609 (FTO) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs6025 (F5) | rs20541 (IL13) | rs4680 (COMT) | rs2569191 (CD14) | rs2075252 (LRP2) | rs2235544 (DIO1) | rs2844682 ()








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