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rs1057519316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519316(C;C)
Make rs1057519316(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1496340
GeneREEP6
is asnp
is mentioned by
dbSNPrs1057519316
dbSNP (classic)rs1057519316
ClinGenrs1057519316
ebirs1057519316
HLIrs1057519316
Exacrs1057519316
Gnomadrs1057519316
Varsomers1057519316
LitVarrs1057519316
Maprs1057519316
PheGenIrs1057519316
Biobankrs1057519316
1000 genomesrs1057519316
hgdprs1057519316
ensemblrs1057519316
geneviewrs1057519316
scholarrs1057519316
googlers1057519316
pharmgkbrs1057519316
gwascentralrs1057519316
openSNPrs1057519316
23andMers1057519316
SNPshotrs1057519316
SNPdbers1057519316
MSV3drs1057519316
GWAS Ctlgrs1057519316
Max Magnitude0
ClinVar
Risk rs1057519316(C;C)
Alt rs1057519316(C;C)
Reference Rs1057519316(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 77
Variation info
Gene REEP6
CLNDBN Retinitis pigmentosa 77
Reversed 0
HGVS NC_000019.9:g.1496339T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415663.1,