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rs786205149

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs786205149(-;-)
Make rs786205149(-;AG)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position211481278
GeneRD3
is asnp
is mentioned by
dbSNPrs786205149
ebirs786205149
HLIrs786205149
Exacrs786205149
Varsomers786205149
Maprs786205149
PheGenIrs786205149
hapmaprs786205149
1000 genomesrs786205149
hgdprs786205149
ensemblrs786205149
gopubmedrs786205149
geneviewrs786205149
scholarrs786205149
googlers786205149
pharmgkbrs786205149
gwascentralrs786205149
openSNPrs786205149
23andMers786205149
23andMe allrs786205149
SNP Nexus

SNPshotrs786205149
SNPdbers786205149
MSV3drs786205149
GWAS Ctlgrs786205149
Max Magnitude0
ClinVar
Risk rs786205149(;)
Alt rs786205149(;)
Reference rs786205149(AG;AG)
Significance Pathogenic
Disease Leber congenital amaurosis 12
Variation info
Gene RD3
CLNDBN Leber congenital amaurosis 12
Reversed 1
HGVS NC_000001.10:g.211654620_211654621delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000170307.3,