Human SNP ID | rs82625 |
---|---|
Human chromosome | chr10 |
Human SNP position | 113996371 |
Pig chromosome | chr14 |
Pig SNP position | 135465407 |
PubMed ID | 22388998 |
---|---|
Journal | Am J Hematol |
Link | www.ncbi.nlm.nih.gov/pubmed/22388998 |
Study | Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. |
Disease/Trait | Gaucher disease severity |
Initial sample | 139 Ashkenazi Jewish cases |
Replication sample | NA |
Region | 10q25.3 |
Chromosome id | chr10 |
Chromosome position | 113996371 |
Reported gene | ADRB1 |
Mapped gene | NHLRC2 - LOC105378492 |
Upstream gene id | 374354 |
Downstream gene id | 105378492 |
SNP gene ids | |
Upstream gene distance | 83865 |
Downstream gene distance | 11820 |
SNP risk allele | rs82625-? |
SNPs | rs82625 |
Merged | 0 |
SNP id current | 82625 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [540902] |
CNV | N |
Mapped trait | Gaucher disease |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_355 |
Study accession | GCST001380 |