HSD17B4
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 3295 |
| PheGenI | 3295 |
| VariationViewer | 3295 |
| ClinVar | HSD17B4 |
| GeneCards | HSD17B4 |
| dbSNP | 3295 |
| Diseases | HSD17B4 |
| SADR | 3295 |
| HugeNav | 3295 |
| wikipedia | HSD17B4 |
| HSD17B4 | |
| gopubmed | HSD17B4 |
| EVS | HSD17B4 |
| HEFalMp | HSD17B4 |
| MyGene2 | HSD17B4 |
| 23andMe | HSD17B4 |
| # SNPs | 40 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5007145 | 118,788,316 | ||
| i5007146 | 118,844,871 | ||
| rs1057516269 | 0 | 119,496,546 | |
| rs1057516273 | 0 | 119,514,979 | |
| rs1057516310 | 0 | 119,479,006 | |
| rs1057516312 | 0 | 119,531,318 | |
| rs1057516672 | 0 | 119,475,721 | |
| rs1057516735 | 0 | 119,506,824 | |
| rs1057516750 | 0 | 119,489,278 | |
| rs1057516859 | 0 | 119,514,983 | |
| rs1057516936 | 0 | 119,527,169 | |
| rs1057516958 | 0 | 119,475,871 | |
| rs1057517045 | 0 | 119,506,856 | |
| rs1057517118 | 0 | 119,499,315 | |
| rs1057517152 | 0 | 119,531,347 | |
| rs1057517217 | 0 | 119,493,820 | |
| rs1057517323 | 0 | 119,525,976 | |
| rs1057519212 | 0 | 119,541,962 | |
| rs1057519420 | 0 | 119,541,962 | |
| rs1085307072 | 0 | 119,452,578 | |
| rs137853096 | 7 | 119,452,621 | |
| rs137853097 | 7 | 119,509,176 | |
| rs191468413 | 0 | 119,525,240 | |
| rs201009485 | 0 | 119,525,971 | |
| rs25640 | 3 | 119,475,838 | |
| rs28943592 | 0 | 119,536,489 | |
| rs368744809 | 0 | 119,493,897 | |
| rs387906825 | 0 | 119,489,219 | |
| rs587777442 | 0 | 119,456,357 | |
| rs587777443 | 0 | 119,525,259 | |
| rs587777444 | 0 | 119,525,250 | |
| rs748057401 | 0 | 119,493,821 | |
| rs755412738 | 0 | 119,525,916 | |
| rs765702241 | 0 | 119,456,323 | |
| rs775766910 | 0 | 119,478,925 | |
| rs786205574 | 0 | 119,477,434 | |
| rs794729224 | 0 | 119,456,320 | |
| rs863225438 | 0 | 119,475,728 | |
| rs886043708 | 0 | 119,527,148 | |
| rs969485098 | 0 | 119,493,820 |
http://en.wikipedia.org/wiki/D-Bifunctional_Protein_Deficiency
DBP deficiency is characterized by low muscle tone and seizures, and most individuals born with this disorder do not live past the age of two years. Clinical features associated with DBP deficiency overlap with the Zellweger syndrome spectrum, this disorder may be under-diagnosed. 23andMe tech report
