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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
# SNPs286
 Max MagnitudeChromosome positionSummary
rs1047376394,041,354
rs1057517700094,062,680
rs1057517701094,041,328
rs1057517869094,037,276
rs1057518767094,098,874
rs1057518955094,019,602
rs1057520212094,015,769
rs1057520213094,001,071
rs1064793004094,112,968
rs1064793005094,103,107
rs1064793006094,062,707
rs1064793007094,056,801
rs1064793008094,056,734
rs1064793009094,043,491
rs1064793010094,041,342
rs1064793011094,040,043
rs1064793012094,031,857
rs1064793013094,008,300
rs1064793014094,007,707
rs1064793015094,001,104
rs1064797091094,031,029
rs1064797113094,031,778
rs1085307968094,021,385
rs112005636093,996,107
rs113106943394,021,848
rs121909203094,051,698
rs121909204094,043,443
rs121909205394,120,994
rs121909206094,015,766
rs121909207094,014,665
rs141823837094,060,739
rs142253670394,008,252
rs144310835094,098,885
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
rs1931575094,067,458
rs200692438394,060,733
rs200967229394,030,427
rs201223321094,055,132
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