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rs121909076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909076(C;C)
Make rs121909076(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35503816
GeneTULP1
is asnp
is mentioned by
dbSNPrs121909076
dbSNP (classic)rs121909076
ClinGenrs121909076
ebirs121909076
HLIrs121909076
Exacrs121909076
Gnomadrs121909076
Varsomers121909076
LitVarrs121909076
Maprs121909076
PheGenIrs121909076
Biobankrs121909076
1000 genomesrs121909076
hgdprs121909076
ensemblrs121909076
geneviewrs121909076
scholarrs121909076
googlers121909076
pharmgkbrs121909076
gwascentralrs121909076
openSNPrs121909076
23andMers121909076
SNPshotrs121909076
SNPdbers121909076
MSV3drs121909076
GWAS Ctlgrs121909076
Max Magnitude0
OMIM602280
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909076(C;C)
Alt rs121909076(C;C)
Reference Rs121909076(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 14 Retinitis pigmentosa
Variation info
Gene TULP1
CLNDBN Retinitis pigmentosa 14 Retinitis pigmentosa
Reversed 1
HGVS NC_000006.11:g.35471593A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007787.4, RCV000132649.1,