Human SNP ID | rs1934179 |
---|---|
Human chromosome | chrX |
Human SNP position | 50439186 |
Pig chromosome | chrX |
Pig SNP position | 49069284 |
PubMed ID | 21113153 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21113153 |
Study | Common variants in DGKK are strongly associated with risk of hypospadias. |
Disease/Trait | Hypospadias |
Initial sample | 436 European ancestry cases, 494 European ancestry controls |
Replication sample | 133 European ancestry cases and their parents, 266 European ancestry cases, 402 European ancestry controls |
Region | Xp11.22 |
Chromosome id | chrX |
Chromosome position | 50439186 |
Reported gene | DGKK |
Mapped gene | DGKK |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 139189 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1934179-A |
SNPs | rs1934179 |
Merged | 0 |
SNP id current | 1934179 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 3E-21 |
Pvalue mlog | 20.5228787452803 |
P value text | |
Or beta | 2.6 |
%95 Ci | [2.1-3.1] |
Platform | Affymetrix [574400] |
CNV | N |
Mapped trait | Familial hypospadias |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_440 |
Study accession | GCST000888 |