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rs1057519341

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519341(-;-)
Make rs1057519341(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1496384
GeneREEP6
is asnp
is mentioned by
dbSNPrs1057519341
dbSNP (old)rs1057519341
ClinGenrs1057519341
ebirs1057519341
HLIrs1057519341
Exacrs1057519341
Gnomadrs1057519341
Varsomers1057519341
Maprs1057519341
PheGenIrs1057519341
Biobankrs1057519341
1000 genomesrs1057519341
hgdprs1057519341
ensemblrs1057519341
gopubmedrs1057519341
geneviewrs1057519341
scholarrs1057519341
googlers1057519341
pharmgkbrs1057519341
gwascentralrs1057519341
openSNPrs1057519341
23andMers1057519341
23andMe allrs1057519341
SNPshotrs1057519341
SNPdbers1057519341
MSV3drs1057519341
GWAS Ctlgrs1057519341
Max Magnitude0
ClinVar
Risk rs1057519341(-;-)
Alt rs1057519341(-;-)
Reference Rs1057519341(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 77
Variation info
Gene REEP6
CLNDBN Retinitis pigmentosa 77
Reversed 0
HGVS NC_000019.9:g.1496383delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000416375.1,