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rs200692438

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200692438(A;C)
Make rs200692438(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position94060733
GeneABCA4
is asnp
is mentioned by
dbSNPrs200692438
ebirs200692438
HLIrs200692438
Exacrs200692438
Varsomers200692438
Maprs200692438
PheGenIrs200692438
hapmaprs200692438
1000 genomesrs200692438
hgdprs200692438
ensemblrs200692438
gopubmedrs200692438
geneviewrs200692438
scholarrs200692438
googlers200692438
pharmgkbrs200692438
gwascentralrs200692438
openSNPrs200692438
23andMers200692438
23andMe allrs200692438
SNP Nexus

SNPshotrs200692438
SNPdbers200692438
MSV3drs200692438
GWAS Ctlgrs200692438
Max Magnitude0
ClinVar
Risk rs200692438(C;C)
Alt rs200692438(C;C)
Reference rs200692438(A;A)
Significance Probable-Pathogenic
Disease Cone-rod dystrophy 3 Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 Stargardt disease 1
Reversed 0
HGVS NC_000001.10:g.94526289A>C
CLNSRC
CLNACC RCV000194199.1,