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rs730880283

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880283(A;G)
Make rs730880283(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position13750239
GeneOFD1
is asnp
is mentioned by
dbSNPrs730880283
ebirs730880283
HLIrs730880283
Exacrs730880283
Varsomers730880283
Maprs730880283
PheGenIrs730880283
hapmaprs730880283
1000 genomesrs730880283
hgdprs730880283
ensemblrs730880283
gopubmedrs730880283
geneviewrs730880283
scholarrs730880283
googlers730880283
pharmgkbrs730880283
gwascentralrs730880283
openSNPrs730880283
23andMers730880283
23andMe allrs730880283
SNP Nexus

SNPshotrs730880283
SNPdbers730880283
MSV3drs730880283
GWAS Ctlgrs730880283
Max Magnitude0
ClinVar
Risk rs730880283(G;G)
Alt rs730880283(G;G)
Reference rs730880283(A;A)
Significance Pathogenic
Disease Retinitis Pigmentosa 23
Variation info
Gene OFD1
CLNDBN Retinitis Pigmentosa 23
Reversed 0
HGVS NC_000023.10:g.13768358A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087736.6,