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rs387906837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906837(G;T)
Make rs387906837(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35505751
GeneTULP1
is asnp
is mentioned by
dbSNPrs387906837
ebirs387906837
HLIrs387906837
Exacrs387906837
Varsomers387906837
Maprs387906837
PheGenIrs387906837
hapmaprs387906837
1000 genomesrs387906837
hgdprs387906837
ensemblrs387906837
gopubmedrs387906837
geneviewrs387906837
scholarrs387906837
googlers387906837
pharmgkbrs387906837
gwascentralrs387906837
openSNPrs387906837
23andMers387906837
23andMe allrs387906837
SNP Nexus

SNPshotrs387906837
SNPdbers387906837
MSV3drs387906837
GWAS Ctlgrs387906837
Max Magnitude0
ClinVar
Risk rs387906837(A,T;A,T)
Alt rs387906837(A,T;A,T)
Reference rs387906837(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.35473528C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023189.3,