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rs104894083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894083(C;T)
Make rs104894083(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position54625917
GeneRP1
is asnp
is mentioned by
dbSNPrs104894083
dbSNP (classic)rs104894083
ClinGenrs104894083
ebirs104894083
HLIrs104894083
Exacrs104894083
Gnomadrs104894083
Varsomers104894083
LitVarrs104894083
Maprs104894083
PheGenIrs104894083
Biobankrs104894083
1000 genomesrs104894083
hgdprs104894083
ensemblrs104894083
geneviewrs104894083
scholarrs104894083
googlers104894083
pharmgkbrs104894083
gwascentralrs104894083
openSNPrs104894083
23andMers104894083
SNPshotrs104894083
SNPdbers104894083
MSV3drs104894083
GWAS Ctlgrs104894083
Max Magnitude0
OMIM603937
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894083(T;T)
Alt rs104894083(T;T)
Reference Rs104894083(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 1
Variation info
Gene RP1
CLNDBN Retinitis pigmentosa 1
Reversed 0
HGVS NC_000008.10:g.55538477C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006332.3,