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rs387906836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906836(C;T)
Make rs387906836(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35503763
GeneTULP1
is asnp
is mentioned by
dbSNPrs387906836
ebirs387906836
HLIrs387906836
Exacrs387906836
Varsomers387906836
Maprs387906836
PheGenIrs387906836
hapmaprs387906836
1000 genomesrs387906836
hgdprs387906836
ensemblrs387906836
gopubmedrs387906836
geneviewrs387906836
scholarrs387906836
googlers387906836
pharmgkbrs387906836
gwascentralrs387906836
openSNPrs387906836
23andMers387906836
23andMe allrs387906836
SNP Nexus

SNPshotrs387906836
SNPdbers387906836
MSV3drs387906836
GWAS Ctlgrs387906836
Max Magnitude0
ClinVar
Risk rs387906836(T;T)
Alt rs387906836(T;T)
Reference rs387906836(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 15
Variation info
Gene TULP1
CLNDBN Leber congenital amaurosis 15
Reversed 1
HGVS NC_000006.11:g.35471540G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023188.2,