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rs312262894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262894(-;-)
Make rs312262894(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13768063
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262894
ebirs312262894
HLIrs312262894
Exacrs312262894
Varsomers312262894
Maprs312262894
PheGenIrs312262894
hapmaprs312262894
1000 genomesrs312262894
hgdprs312262894
ensemblrs312262894
gopubmedrs312262894
geneviewrs312262894
scholarrs312262894
googlers312262894
pharmgkbrs312262894
gwascentralrs312262894
openSNPrs312262894
23andMers312262894
23andMe allrs312262894
SNP Nexus

SNPshotrs312262894
SNPdbers312262894
MSV3drs312262894
GWAS Ctlgrs312262894
Max Magnitude0
ClinVar
Risk rs312262894(;)
Alt rs312262894(;)
Reference rs312262894(G;G)
Significance Pathogenic
Disease Joubert syndrome 10 Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Joubert syndrome 10 Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13786182delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000012301.24, RCV000034004.2,


[PMID 19800048OA-icon.png] OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.