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rs786205150

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205150(G;T)
Make rs786205150(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position211481280
GeneRD3
is asnp
is mentioned by
dbSNPrs786205150
ebirs786205150
HLIrs786205150
Exacrs786205150
Varsomers786205150
Maprs786205150
PheGenIrs786205150
hapmaprs786205150
1000 genomesrs786205150
hgdprs786205150
ensemblrs786205150
gopubmedrs786205150
geneviewrs786205150
scholarrs786205150
googlers786205150
pharmgkbrs786205150
gwascentralrs786205150
openSNPrs786205150
23andMers786205150
23andMe allrs786205150
SNP Nexus

SNPshotrs786205150
SNPdbers786205150
MSV3drs786205150
GWAS Ctlgrs786205150
Max Magnitude0
ClinVar
Risk rs786205150(T;T)
Alt rs786205150(T;T)
Reference rs786205150(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.211654622C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170308.3,