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rs377269054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377269054(A;A)
Make rs377269054(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position10622967
GeneRP1L1
is asnp
is mentioned by
dbSNPrs377269054
dbSNP (classic)rs377269054
ClinGenrs377269054
ebirs377269054
HLIrs377269054
Exacrs377269054
Gnomadrs377269054
Varsomers377269054
LitVarrs377269054
Maprs377269054
PheGenIrs377269054
Biobankrs377269054
1000 genomesrs377269054
hgdprs377269054
ensemblrs377269054
geneviewrs377269054
scholarrs377269054
googlers377269054
pharmgkbrs377269054
gwascentralrs377269054
openSNPrs377269054
23andMers377269054
SNPshotrs377269054
SNPdbers377269054
MSV3drs377269054
GWAS Ctlgrs377269054
Max Magnitude0
ClinVar
Risk rs377269054(A;A)
Alt rs377269054(A;A)
Reference Rs377269054(G;G)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene RP1L1
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000008.10:g.10480477G>A
CLNSRC ClinVar
CLNACC RCV000132696.1,