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rs118031911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118031911(C;T)
Make rs118031911(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position54629679
GeneRP1
is asnp
is mentioned by
dbSNPrs118031911
dbSNP (classic)rs118031911
ClinGenrs118031911
ebirs118031911
HLIrs118031911
Exacrs118031911
Gnomadrs118031911
Varsomers118031911
LitVarrs118031911
Maprs118031911
PheGenIrs118031911
Biobankrs118031911
1000 genomesrs118031911
hgdprs118031911
ensemblrs118031911
geneviewrs118031911
scholarrs118031911
googlers118031911
pharmgkbrs118031911
gwascentralrs118031911
openSNPrs118031911
23andMers118031911
SNPshotrs118031911
SNPdbers118031911
MSV3drs118031911
GWAS Ctlgrs118031911
Max Magnitude0
ClinVar
Risk rs118031911(T;T)
Alt rs118031911(T;T)
Reference Rs118031911(C;C)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene RP1
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000008.10:g.55542239C>T
CLNSRC ClinVar
CLNACC RCV000132661.1,