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rs1057519427

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519427(-;C)
Make rs1057519427(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1496630
GeneREEP6
is asnp
is mentioned by
dbSNPrs1057519427
dbSNP (old)rs1057519427
ClinGenrs1057519427
ebirs1057519427
HLIrs1057519427
Exacrs1057519427
Gnomadrs1057519427
Varsomers1057519427
Maprs1057519427
PheGenIrs1057519427
Biobankrs1057519427
1000 genomesrs1057519427
hgdprs1057519427
ensemblrs1057519427
gopubmedrs1057519427
geneviewrs1057519427
scholarrs1057519427
googlers1057519427
pharmgkbrs1057519427
gwascentralrs1057519427
openSNPrs1057519427
23andMers1057519427
23andMe allrs1057519427
SNPshotrs1057519427
SNPdbers1057519427
MSV3drs1057519427
GWAS Ctlgrs1057519427
Max Magnitude0
ClinVar
Risk rs1057519427(C;C)
Alt rs1057519427(C;C)
Reference Rs1057519427(-;-)
Significance Pathogenic
Disease Retinitis pigmentosa 77
Variation info
Gene REEP6
CLNDBN Retinitis pigmentosa 77
Reversed 0
HGVS NC_000019.9:g.1496629dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415710.1,