Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAGAC;AAAAGAC) 0 common in clinvar
Make rs312262895(-;-)
Make rs312262895(-;AAAAGAC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13768137
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262895
ebirs312262895
HLIrs312262895
Exacrs312262895
Varsomers312262895
Maprs312262895
PheGenIrs312262895
hapmaprs312262895
1000 genomesrs312262895
hgdprs312262895
ensemblrs312262895
gopubmedrs312262895
geneviewrs312262895
scholarrs312262895
googlers312262895
pharmgkbrs312262895
gwascentralrs312262895
openSNPrs312262895
23andMers312262895
23andMe allrs312262895
SNP Nexus

SNPshotrs312262895
SNPdbers312262895
MSV3drs312262895
GWAS Ctlgrs312262895
Max Magnitude0
ClinVar
Risk rs312262895(;)
Alt rs312262895(;)
Reference rs312262895(AAAAGAC;AAAAGAC)
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.13786256_13786262delAAAAGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012300.15, RCV000034005.2,


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