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rs1057519317

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519317(C;T)
Make rs1057519317(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1496319
GeneREEP6
is asnp
is mentioned by
dbSNPrs1057519317
dbSNP (old)rs1057519317
ClinGenrs1057519317
ebirs1057519317
HLIrs1057519317
Exacrs1057519317
Gnomadrs1057519317
Varsomers1057519317
Maprs1057519317
PheGenIrs1057519317
Biobankrs1057519317
1000 genomesrs1057519317
hgdprs1057519317
ensemblrs1057519317
gopubmedrs1057519317
geneviewrs1057519317
scholarrs1057519317
googlers1057519317
pharmgkbrs1057519317
gwascentralrs1057519317
openSNPrs1057519317
23andMers1057519317
23andMe allrs1057519317
SNPshotrs1057519317
SNPdbers1057519317
MSV3drs1057519317
GWAS Ctlgrs1057519317
Max Magnitude0
ClinVar
Risk rs1057519317(T;T)
Alt rs1057519317(T;T)
Reference Rs1057519317(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 77
Variation info
Gene REEP6
CLNDBN Retinitis pigmentosa 77
Reversed 0
HGVS NC_000019.9:g.1496318C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415637.1,