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rs61751407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 0 common in clinvar


Make rs61751407(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position94010795
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751407
dbSNP (old)rs61751407
ClinGenrs61751407
ebirs61751407
HLIrs61751407
Exacrs61751407
Gnomadrs61751407
Varsomers61751407
Maprs61751407
PheGenIrs61751407
Biobankrs61751407
1000 genomesrs61751407
hgdprs61751407
ensemblrs61751407
gopubmedrs61751407
geneviewrs61751407
scholarrs61751407
googlers61751407
pharmgkbrs61751407
gwascentralrs61751407
openSNPrs61751407
23andMers61751407
23andMe allrs61751407
SNP Nexus

SNPshotrs61751407
SNPdbers61751407
MSV3drs61751407
GWAS Ctlgrs61751407
Max Magnitude3
ClinVar
Risk rs61751407(A;A)
Alt rs61751407(A;A)
Reference Rs61751407(G;G)
Significance Pathogenic
Disease not provided Retinitis pigmentosa 19 Stargardt disease 1 Cone-rod dystrophy 3
Variation info
Gene ABCA4
CLNDBN not provided Retinitis pigmentosa 19 Stargardt disease 1 Cone-rod dystrophy 3
Reversed 1
HGVS NC_000001.10:g.94476351C>T
CLNSRC
CLNACC RCV000085757.2, RCV000210303.2, RCV000210321.3, RCV000332324.2,