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rs62636273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62636273(A;A)
Make rs62636273(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197429460
GeneCRB1
is asnp
is mentioned by
dbSNPrs62636273
dbSNP (classic)rs62636273
ClinGenrs62636273
ebirs62636273
HLIrs62636273
Exacrs62636273
Gnomadrs62636273
Varsomers62636273
LitVarrs62636273
Maprs62636273
PheGenIrs62636273
Biobankrs62636273
1000 genomesrs62636273
hgdprs62636273
ensemblrs62636273
geneviewrs62636273
scholarrs62636273
googlers62636273
pharmgkbrs62636273
gwascentralrs62636273
openSNPrs62636273
23andMers62636273
SNPshotrs62636273
SNPdbers62636273
MSV3drs62636273
GWAS Ctlgrs62636273
Max Magnitude0
ClinVar
Risk rs62636273(A;A)
Alt rs62636273(A;A)
Reference Rs62636273(T;T)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 8
Variation info
Gene CRB1
CLNDBN not provided Leber congenital amaurosis 8
Reversed 0
HGVS NC_000001.10:g.197398590T>A
CLNSRC
CLNACC RCV000086328.1, RCV000180393.1,