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rs446227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs446227(A;A)
Make rs446227(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position54628890
GeneRP1
is asnp
is mentioned by
dbSNPrs446227
ebirs446227
HLIrs446227
Exacrs446227
Varsomers446227
Maprs446227
PheGenIrs446227
hapmaprs446227
1000 genomesrs446227
hgdprs446227
ensemblrs446227
gopubmedrs446227
geneviewrs446227
scholarrs446227
googlers446227
pharmgkbrs446227
gwascentralrs446227
openSNPrs446227
23andMers446227
23andMe allrs446227
SNP Nexus

SNPshotrs446227
SNPdbers446227
MSV3drs446227
GWAS Ctlgrs446227
GMAF0.275
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene RP1
allele A
frequency 0.233
sift TOLERATED
HuRef 1103652322959
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.



Neighborrs414352
Distance63
[PMID 20664799OA-icon.png] Differential pattern of RP1 mutations in retinitis pigmentosa.


GET Evidence
RP1-A1670T
aa_change Ala1670Thr
aa_change_short A1670T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.204034
summary



ClinVar
Risk rs446227(A;A)
Alt rs446227(A;A)
Reference rs446227(G;G)
Significance Probable-non-pathogenic
Disease not specified not provided
Variation info
Gene RP1
CLNDBN not specified not provided
Reversed 0
HGVS NC_000008.10:g.55541450G>A
CLNSRC HGMD
CLNACC RCV000081371.4, RCV000132660.1,