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rs7764472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7764472(C;C)
Make rs7764472(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position35511797
GeneTULP1
is asnp
is mentioned by
dbSNPrs7764472
dbSNP (classic)rs7764472
ClinGenrs7764472
ebirs7764472
HLIrs7764472
Exacrs7764472
Gnomadrs7764472
Varsomers7764472
LitVarrs7764472
Maprs7764472
PheGenIrs7764472
Biobankrs7764472
1000 genomesrs7764472
hgdprs7764472
ensemblrs7764472
geneviewrs7764472
scholarrs7764472
googlers7764472
pharmgkbrs7764472
gwascentralrs7764472
openSNPrs7764472
23andMers7764472
SNPshotrs7764472
SNPdbers7764472
MSV3drs7764472
GWAS Ctlgrs7764472
GMAF0.1129
Max Magnitude0


ClinVar
Risk rs7764472(C;C) rs7764472(T;T)
Alt rs7764472(C;C) rs7764472(T;T)
Reference Rs7764472(G;G)
Significance Non-pathogenic
Disease Retinitis Pigmentosa not specified Leber congenital amaurosis
Variation info
Gene TULP1
CLNDBN Retinitis Pigmentosa, Recessive not specified Leber congenital amaurosis
Reversed 0
HGVS NC_000006.11:g.35479574G>C
CLNSRC
CLNACC RCV000296887.1, RCV000332978.1, RCV000398291.1,



[PMID 19339744OA-icon.png] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.