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HSD17B4

From SNPedia

is agene
is mentioned by
EntrezGene3295
PheGenI3295
VariationViewer3295
ClinVarHSD17B4
dbSNP3295
SADR3295
HugeNav3295
wikipediaHSD17B4
googleHSD17B4
gopubmedHSD17B4
EVSHSD17B4
HEFalMpHSD17B4
MyGene2HSD17B4
23andMeHSD17B4
# SNPs16
 Max MagnitudeChromosome positionSummary
I5007145118,788,316
I5007146118,844,871
rs1378530960119,452,621
rs1378530970119,509,176
rs2010094850119,525,971
rs256400119,475,838
rs289435920119,536,489
rs3687448090119,493,897
rs3879068250119,489,219
rs5877774420119,456,357
rs5877774430119,525,259
rs5877774440119,525,250
rs7757669100119,478,925
rs7862055740119,477,434
rs7947292240119,456,320
rs863225438119,475,728

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