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rs1060500123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500123(C;T)
Make rs1060500123(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position13767252
GeneOFD1
is asnp
is mentioned by
dbSNPrs1060500123
dbSNP (old)rs1060500123
ClinGenrs1060500123
ebirs1060500123
HLIrs1060500123
Exacrs1060500123
Gnomadrs1060500123
Varsomers1060500123
LitVarrs1060500123
Maprs1060500123
PheGenIrs1060500123
Biobankrs1060500123
1000 genomesrs1060500123
hgdprs1060500123
ensemblrs1060500123
gopubmedrs1060500123
geneviewrs1060500123
scholarrs1060500123
googlers1060500123
pharmgkbrs1060500123
gwascentralrs1060500123
openSNPrs1060500123
23andMers1060500123
23andMe allrs1060500123
SNPshotrs1060500123
SNPdbers1060500123
MSV3drs1060500123
GWAS Ctlgrs1060500123
Max Magnitude0
ClinVar
Risk rs1060500123(T;T)
Alt rs1060500123(T;T)
Reference Rs1060500123(C;C)
Significance Pathogenic
Disease Joubert syndrome Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Joubert syndrome Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13785371C>T
CLNSRC
CLNACC RCV000465580.1,