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rs386834260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834260(A;A)
Make rs386834260(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position211481119
GeneRD3
is asnp
is mentioned by
dbSNPrs386834260
ebirs386834260
HLIrs386834260
Exacrs386834260
Varsomers386834260
Maprs386834260
PheGenIrs386834260
hapmaprs386834260
1000 genomesrs386834260
hgdprs386834260
ensemblrs386834260
gopubmedrs386834260
geneviewrs386834260
scholarrs386834260
googlers386834260
pharmgkbrs386834260
gwascentralrs386834260
openSNPrs386834260
23andMers386834260
23andMe allrs386834260
SNP Nexus

SNPshotrs386834260
SNPdbers386834260
MSV3drs386834260
GWAS Ctlgrs386834260
Max Magnitude0
ClinVar
Risk rs386834260(A;A)
Alt rs386834260(A;A)
Reference rs386834260(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 12
Variation info
Gene RD3
CLNDBN Leber congenital amaurosis 12
Reversed 1
HGVS NC_000001.10:g.211654461C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014001.19,