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BTD

From SNPedia

is agene
is mentioned by
Full namebiotinidase
EntrezGene686
PheGenI686
VariationViewer686
ClinVarBTD
GeneCardsBTD
dbSNP686
SADR686
HugeNav686
wikipediaBTD
googleBTD
gopubmedBTD
EVSBTD
HEFalMpBTD
MyGene2BTD
23andMeBTD
UniProtP43251
EnsemblENSG00000169814
OMIM609019
# SNPs157
 Max MagnitudeChromosome positionSummary
rs104893686015,645,063
rs104893687015,635,614
rs104893688015,645,451
rs104893692015,645,322
rs112195009015,644,488
rs119103232015,635,479
rs13073139015,644,367
rs13078881015,645,186
rs138818907015,645,345
rs146011150015,635,507
rs146015592015,644,326
rs146136265015,645,485
rs146600671015,645,225
rs151071780015,635,641
rs181396238015,645,288
rs190386869015,644,499
rs200327983015,644,902
rs200337373015,644,520
rs201023772015,645,061
rs201604102015,645,311
rs28934601015,644,611
rs34885143015,635,512
rs35034250015,645,027
rs35145938015,645,140
rs35976361015,644,736
rs367902696015,642,041
rs372844636015,644,487
rs374141881015,645,093
rs374681173015,642,052
rs375712490015,641,939
rs377651057015,644,791
rs397507170015,635,563
rs397507171015,635,624
rs397507172015,641,924
rs397507173015,644,415
rs397507174015,644,485
rs397507175015,644,590
rs397507176015,644,824
rs397514333015,635,591
rs397514334015,644,721
rs397514335015,645,127
rs397514336015,635,515
rs397514337015,635,538
rs397514338015,635,539
rs397514339015,635,550
rs397514340015,635,569
rs397514341015,635,573
rs397514343015,635,615
rs397514345015,645,217
rs397514346015,635,625
... further results

Variants in BTD may cause biotinidase deficiency, which causes a deficiency in the vitamin biotin. A chart of various known variants and their effects is available here: http://www.arup.utah.edu/database/BTD/BTD_display.php

See the OMIM and UniProt links for additional information.