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rs786205148

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205148(C;T)
Make rs786205148(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position211481304
GeneRD3
is asnp
is mentioned by
dbSNPrs786205148
ebirs786205148
HLIrs786205148
Exacrs786205148
Varsomers786205148
Maprs786205148
PheGenIrs786205148
hapmaprs786205148
1000 genomesrs786205148
hgdprs786205148
ensemblrs786205148
gopubmedrs786205148
geneviewrs786205148
scholarrs786205148
googlers786205148
pharmgkbrs786205148
gwascentralrs786205148
openSNPrs786205148
23andMers786205148
23andMe allrs786205148
SNP Nexus

SNPshotrs786205148
SNPdbers786205148
MSV3drs786205148
GWAS Ctlgrs786205148
Max Magnitude0
ClinVar
Risk rs786205148(T;T)
Alt rs786205148(T;T)
Reference rs786205148(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 12
Variation info
Gene RD3
CLNDBN Leber congenital amaurosis 12
Reversed 1
HGVS NC_000001.10:g.211654646G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170306.3,