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rs386834261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCTG;CCCTG) 0 common in clinvar
(GCCCT;GCCCT) 0 common in clinvar
Make rs386834261(-;-)
Make rs386834261(-;CCCTG)
ReferenceGRCh38 38.1/141
Chromosome14
Position67729338
GeneRDH12
is asnp
is mentioned by
dbSNPrs386834261
ebirs386834261
HLIrs386834261
Exacrs386834261
Varsomers386834261
Maprs386834261
PheGenIrs386834261
hapmaprs386834261
1000 genomesrs386834261
hgdprs386834261
ensemblrs386834261
gopubmedrs386834261
geneviewrs386834261
scholarrs386834261
googlers386834261
pharmgkbrs386834261
gwascentralrs386834261
openSNPrs386834261
23andMers386834261
23andMe allrs386834261
SNP Nexus

SNPshotrs386834261
SNPdbers386834261
MSV3drs386834261
GWAS Ctlgrs386834261
Max Magnitude0
ClinVar
Risk rs386834261(;)
Alt rs386834261(;)
Reference rs386834261(GCCCT;GCCCT)
Significance Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68196055_68196059delCCCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002128.5,