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rs414352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs414352(C;C)
Make rs414352(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position54628953
GeneRP1
is asnp
is mentioned by
dbSNPrs414352
ebirs414352
HLIrs414352
Exacrs414352
Varsomers414352
Maprs414352
PheGenIrs414352
hapmaprs414352
1000 genomesrs414352
hgdprs414352
ensemblrs414352
gopubmedrs414352
geneviewrs414352
scholarrs414352
googlers414352
pharmgkbrs414352
gwascentralrs414352
openSNPrs414352
23andMers414352
23andMe allrs414352
SNP Nexus

SNPshotrs414352
SNPdbers414352
MSV3drs414352
GWAS Ctlgrs414352
GMAF0.3039
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene RP1
allele C
frequency 0.233
sift TOLERATED
HuRef 1103652322963
Disease Association Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) (MIM:180100). RP1 is a disease characterized by constriction of the visual fields, night blindness, and fundus changes. The disease seems to be associated with truncated (stop or frameshift mutations) forms of the protein.



Neighborrs446227
Distance63
[PMID 19339744OA-icon.png] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.


[PMID 20664799OA-icon.png] Differential pattern of RP1 mutations in retinitis pigmentosa.


GET Evidence
RP1-S1691P
aa_change Ser1691Pro
aa_change_short S1691P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.247537
summary



ClinVar
Risk rs414352(C;C)
Alt rs414352(C;C)
Reference rs414352(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene RP1
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.55541513T>C
CLNSRC ClinVar Emory University
CLNACC RCV000081373.4,