Human SNP ID | rs2273061 |
---|---|
Human chromosome | chr20 |
Human SNP position | 10658895 |
Pig chromosome | chr17 |
Pig SNP position | 22089936 |
PubMed ID | 20096396 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20096396 |
Study | Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. |
Disease/Trait | Bone mineral density |
Initial sample | 785 Han Chinese ancestry extreme high and low BMD female individuals |
Replication sample | 264 Han Chinese ancestry High BMD individuals, 456 Han Chinese ancestry Low BMD individuals, 3,465 Han Chinese ancestry individuals, 13,913 European ancestry individuals |
Region | 20p12.2 |
Chromosome id | chr20 |
Chromosome position | 10658895 |
Reported gene | JAG1 |
Mapped gene | JAG1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 182 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2273061-A |
SNPs | rs2273061 |
Merged | 0 |
SNP id current | 2273061 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.31 |
P value | 0.00000005 |
Pvalue mlog | 7.30102999566398 |
P value text | (lumbar spine) |
Or beta | 0.07 |
%95 Ci | [NR] s.d. increase |
Platform | Illumina [488853] |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST000572 |