Have questions? Visit https://www.reddit.com/r/SNPedia

rs444772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs444772(A;A)
Make rs444772(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position54626497
GeneRP1
is asnp
is mentioned by
dbSNPrs444772
ebirs444772
HLIrs444772
Exacrs444772
Varsomers444772
Maprs444772
PheGenIrs444772
hapmaprs444772
1000 genomesrs444772
hgdprs444772
ensemblrs444772
gopubmedrs444772
geneviewrs444772
scholarrs444772
googlers444772
pharmgkbrs444772
gwascentralrs444772
openSNPrs444772
23andMers444772
23andMe allrs444772
SNP Nexus

SNPshotrs444772
SNPdbers444772
MSV3drs444772
GWAS Ctlgrs444772
GMAF0.3003
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene RP1
allele A
frequency 0.233
sift
HuRef 1103652322956
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.



Neighborrs2293869
Distance338
[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-R872H
aa_change Arg872His
aa_change_short R872H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.235426
summary



ClinVar
Risk rs444772(A;A)
Alt rs444772(A;A)
Reference rs444772(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene RP1
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.55539057G>A
CLNSRC
CLNACC RCV000153847.3,