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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
ebirs7764472
HLIrs7764472
Exacrs7764472
Varsomers7764472
Maprs7764472
PheGenIrs7764472
hapmaprs7764472
1000 genomesrs7764472
hgdprs7764472
ensemblrs7764472
gopubmedrs7764472
geneviewrs7764472
scholarrs7764472
googlers7764472
pharmgkbrs7764472
gwascentralrs7764472
openSNPrs7764472
23andMers7764472
23andMe allrs7764472
SNP Nexus

SNPshotrs7764472
SNPdbers7764472
MSV3drs7764472
GWAS Ctlgrs7764472
GMAF0.1129
Max Magnitude0
Venter snp
Source plos
Gene TULP1
allele C
frequency
sift TOLERATED
HuRef 1103652839707
Disease Association Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) (MIM:600132); an autosomal recessive form of vision defect.



ClinVar
Risk rs7764472(C;C)
Alt rs7764472(C;C)
Reference rs7764472(G;G)
Significance Untested
Disease
Variation info
Gene TULP1
CLNDBN
Reversed 0
HGVS NC_000006.11:g.35479574G>C
CLNSRC
CLNACC



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


GET Evidence
TULP1-T67R
aa_change Thr67Arg
aa_change_short T67R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.905035
summary