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ABCA4

From SNPedia

is agene
is mentioned by
Full nameATP-binding cassette, sub-family A (ABC1), member 4
EntrezGene24
PheGenI24
VariationViewer24
ClinVarABCA4
GeneCardsABCA4
dbSNP24
DiseasesABCA4
SADR24
HugeNav24
wikipediaABCA4
googleABCA4
gopubmedABCA4
EVSABCA4
HEFalMpABCA4
MyGene2ABCA4
23andMeABCA4
UniProtP78363
EnsemblENSG00000198691
OMIM601691
# SNPs212
 Max MagnitudeChromosome positionSummary
rs1047376394,041,354
rs11200563693,996,107
rs113106943394,021,848
rs12190920394,051,698
rs121909204094,043,443
rs121909205394,120,994
rs121909206094,015,766
rs121909207094,014,665
rs14182383794,060,739
rs142253670394,008,252
rs14431083594,098,885
rs145525174394,063,218
rs145961131094,062,608
rs150774447394,111,579
rs17110736093,997,213
rs1762111394,021,934
rs1800552394,010,821
rs1800553394,008,251
rs1800555093,998,061
rs1800728394,011,395
rs1801269394,041,345
rs1801581094,047,009
rs193157594,067,458
rs200692438394,060,733
rs200967229394,030,427
rs20122332194,055,132
rs201471607394,046,943
rs201738997394,121,045
rs201855602094,043,470
rs281865377094,029,446
rs281865379094,046,951
rs28938473594,007,731
rs3112831094,078,678
rs368846708394,046,962
rs37148980994,011,274
rs374343397394,019,641
rs376925793394,010,908
rs377311148394,011,297
rs387906385094,042,877
rs387906386094,062,666
rs387906387094,079,336
rs387906388094,040,096
rs398123339394,113,068
rs41292677694,001,992
rs48193194,104,460
rs527236129094,047,039
rs55732384394,111,561
rs56042694,087,882
rs56357060394,030,483
rs568792949394,029,465
... further results

Associated with Stargardt disease.

[PMID 28118664OA-icon.png] Mutation Spectrum of the ABCA4 Gene in 335 Stargardt disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs