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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
# SNPs283
 Max MagnitudeChromosome positionSummary
rs1047376394,041,354
rs1057517700
rs1057517701
rs1057517869
rs1057518767
rs1057518955
rs1057520212
rs1057520213
rs1064793004
rs1064793005
rs1064793006
rs1064793007
rs1064793008
rs1064793009
rs1064793010
rs1064793011
rs1064793012
rs1064793013
rs1064793014
rs1064793015
rs1064797091
rs1064797113
rs1085307968
rs112005636
rs113106943394,021,848
rs12190920394,051,698
rs121909204094,043,443
rs121909205394,120,994
rs121909206094,015,766
rs121909207094,014,665
rs141823837
rs142253670394,008,252
rs144310835
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
rs201223321
rs201471607394,046,943
rs201738997394,121,045
... 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