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rs387906835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906835(G;T)
Make rs387906835(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35503757
GeneTULP1
is asnp
is mentioned by
dbSNPrs387906835
ebirs387906835
HLIrs387906835
Exacrs387906835
Varsomers387906835
Maprs387906835
PheGenIrs387906835
hapmaprs387906835
1000 genomesrs387906835
hgdprs387906835
ensemblrs387906835
gopubmedrs387906835
geneviewrs387906835
scholarrs387906835
googlers387906835
pharmgkbrs387906835
gwascentralrs387906835
openSNPrs387906835
23andMers387906835
23andMe allrs387906835
SNP Nexus

SNPshotrs387906835
SNPdbers387906835
MSV3drs387906835
GWAS Ctlgrs387906835
Max Magnitude0
ClinVar
Risk rs387906835(T;T)
Alt rs387906835(T;T)
Reference rs387906835(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 15
Variation info
Gene TULP1
CLNDBN Leber congenital amaurosis 15
Reversed 1
HGVS NC_000006.11:g.35471534C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023187.3,