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

rs398122866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCAAAAATTAAAATGGA;AGCAAAAATTAAAATGGA) 0 common in clinvar
(ATTAAAATGGAAGCAAAA;ATTAAAATGGAAGCAAAA) 0 common in clinvar
Make rs398122866(-;-)
Make rs398122866(-;ATTAAAATGGAAGCAAAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746813
GeneOFD1
is asnp
is mentioned by
dbSNPrs398122866
dbSNP (old)rs398122866
ClinGenrs398122866
ebirs398122866
HLIrs398122866
Exacrs398122866
Gnomadrs398122866
Varsomers398122866
Maprs398122866
PheGenIrs398122866
Biobankrs398122866
1000 genomesrs398122866
hgdprs398122866
ensemblrs398122866
gopubmedrs398122866
geneviewrs398122866
scholarrs398122866
googlers398122866
pharmgkbrs398122866
gwascentralrs398122866
openSNPrs398122866
23andMers398122866
23andMe allrs398122866
SNP Nexus

SNPshotrs398122866
SNPdbers398122866
MSV3drs398122866
GWAS Ctlgrs398122866
Max Magnitude0
ClinVar
Risk rs398122866(-;-)
Alt rs398122866(-;-)
Reference Rs398122866(AGCAAAAATTAAAATGGA;AGCAAAAATTAAAATGGA)
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.13764932_13764949del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000029157.24, RCV000256359.1,