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rs201223321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201223321(A;T)
Make rs201223321(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position94055132
GeneABCA4
is asnp
is mentioned by
dbSNPrs201223321
dbSNP (old)rs201223321
ClinGenrs201223321
ebirs201223321
HLIrs201223321
Exacrs201223321
Gnomadrs201223321
Varsomers201223321
Maprs201223321
PheGenIrs201223321
Biobankrs201223321
1000 genomesrs201223321
hgdprs201223321
ensemblrs201223321
gopubmedrs201223321
geneviewrs201223321
scholarrs201223321
googlers201223321
pharmgkbrs201223321
gwascentralrs201223321
openSNPrs201223321
23andMers201223321
23andMe allrs201223321
SNPshotrs201223321
SNPdbers201223321
MSV3drs201223321
GWAS Ctlgrs201223321
Max Magnitude0
ClinVar
Risk rs201223321(G;G) rs201223321(T;T)
Alt rs201223321(G;G) rs201223321(T;T)
Reference Rs201223321(A;A)
Significance Probable-Pathogenic
Disease Retinal dystrophy not provided
Variation info
Gene ABCA4
CLNDBN Retinal dystrophy not provided
Reversed 0
HGVS NC_000001.10:g.94520688A>T
CLNSRC
CLNACC RCV000225582.1, RCV000481787.1,