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rs863225212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225212(C;T)
Make rs863225212(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position13767195
GeneOFD1
is asnp
is mentioned by
dbSNPrs863225212
dbSNP (classic)rs863225212
ClinGenrs863225212
ebirs863225212
HLIrs863225212
Exacrs863225212
Gnomadrs863225212
Varsomers863225212
LitVarrs863225212
Maprs863225212
PheGenIrs863225212
Biobankrs863225212
1000 genomesrs863225212
hgdprs863225212
ensemblrs863225212
geneviewrs863225212
scholarrs863225212
googlers863225212
pharmgkbrs863225212
gwascentralrs863225212
openSNPrs863225212
23andMers863225212
SNPshotrs863225212
SNPdbers863225212
MSV3drs863225212
GWAS Ctlgrs863225212
Max Magnitude0
ClinVar
Risk rs863225212(T;T)
Alt rs863225212(T;T)
Reference Rs863225212(C;C)
Significance Pathogenic
Disease Joubert syndrome 10 not provided
Variation info
Gene OFD1
CLNDBN Joubert syndrome 10 not provided
Reversed 0
HGVS NC_000023.10:g.13785314C>T
CLNSRC
CLNACC RCV000201562.1, RCV000484195.1,