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rs794728002

From SNPedia

Orientationminus
Geno Mag Summary
(AGCCAGCCCTGGA;AGCCAGCCCTGGA) 0 common in clinvar
Make rs794728002(-;-)
Make rs794728002(-;AGCCAGCCCTGGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position29071494
GeneC2orf71, LOC105374385
is asnp
is mentioned by
dbSNPrs794728002
ebirs794728002
HLIrs794728002
Exacrs794728002
Varsomers794728002
Maprs794728002
PheGenIrs794728002
hapmaprs794728002
1000 genomesrs794728002
hgdprs794728002
ensemblrs794728002
gopubmedrs794728002
geneviewrs794728002
scholarrs794728002
googlers794728002
pharmgkbrs794728002
gwascentralrs794728002
openSNPrs794728002
23andMers794728002
23andMe allrs794728002
SNP Nexus

SNPshotrs794728002
SNPdbers794728002
MSV3drs794728002
GWAS Ctlgrs794728002
Max Magnitude0
ClinVar
Risk rs794728002(;)
Alt rs794728002(;)
Reference rs794728002(AGCCAGCCCTGGA;AGCCAGCCCTGGA)
Significance Pathogenic
Disease Retinitis pigmentosa 54
Variation info
Gene C2orf71
CLNDBN Retinitis pigmentosa 54
Reversed 1
HGVS NC_000002.11:g.29294360_29294372delTCCAGGGCTGGCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000125.3,