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rs61748550

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61748550(C;T)
Make rs61748550(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position94079339
GeneABCA4
is asnp
is mentioned by
dbSNPrs61748550
ebirs61748550
HLIrs61748550
Exacrs61748550
Varsomers61748550
Maprs61748550
PheGenIrs61748550
hapmaprs61748550
1000 genomesrs61748550
hgdprs61748550
ensemblrs61748550
gopubmedrs61748550
geneviewrs61748550
scholarrs61748550
googlers61748550
pharmgkbrs61748550
gwascentralrs61748550
openSNPrs61748550
23andMers61748550
23andMe allrs61748550
SNP Nexus

SNPshotrs61748550
SNPdbers61748550
MSV3drs61748550
GWAS Ctlgrs61748550
Max Magnitude0
ClinVar
Risk rs61748550(T;T)
Alt rs61748550(T;T)
Reference rs61748550(C;C)
Significance Pathogenic
Disease not provided Stargardt disease 1 Retinitis pigmentosa 19 Age-related macular degeneration 2 Cone-rod dystrophy 3
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1 Retinitis pigmentosa 19 Age-related macular degeneration 2 Cone-rod dystrophy 3
Reversed 1
HGVS NC_000001.10:g.94544895G>A
CLNSRC HGMD
CLNACC RCV000085378.1, RCV000152707.3, RCV000152708.3, RCV000152709.3, RCV000152710.3,