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HSD17B4

From SNPedia
is agene
is mentioned by
EntrezGene3295
PheGenI3295
VariationViewer3295
ClinVarHSD17B4
GeneCardsHSD17B4
dbSNP3295
DiseasesHSD17B4
SADR3295
HugeNav3295
wikipediaHSD17B4
googleHSD17B4
gopubmedHSD17B4
EVSHSD17B4
HEFalMpHSD17B4
MyGene2HSD17B4
23andMeHSD17B4
# SNPs40
 Max MagnitudeChromosome positionSummary
i5007145118,788,316
i5007146118,844,871
rs10575162690119,496,546
rs10575162730119,514,979
rs10575163100119,479,006
rs10575163120119,531,318
rs10575166720119,475,721
rs10575167350119,506,824
rs10575167500119,489,278
rs10575168590119,514,983
rs10575169360119,527,169
rs10575169580119,475,871
rs10575170450119,506,856
rs10575171180119,499,315
rs10575171520119,531,347
rs10575172170119,493,820
rs10575173230119,525,976
rs10575192120119,541,962
rs10575194200119,541,962
rs10853070720119,452,578
rs1378530960119,452,621
rs1378530970119,509,176
rs1914684130119,525,240
rs2010094850119,525,971
rs256400119,475,838
rs289435920119,536,489
rs3687448090119,493,897
rs3879068250119,489,219
rs5877774420119,456,357
rs5877774430119,525,259
rs5877774440119,525,250
rs7480574010119,493,821
rs7554127380119,525,916
rs7657022410119,456,323
rs7757669100119,478,925
rs7862055740119,477,434
rs7947292240119,456,320
rs8632254380119,475,728
rs8860437080119,527,148
rs9694850980119,493,820

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

i5007145 and i5007146