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rs312262819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262819(C;C)
Make rs312262819(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736640
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262819
ebirs312262819
HLIrs312262819
Exacrs312262819
Varsomers312262819
Maprs312262819
PheGenIrs312262819
hapmaprs312262819
1000 genomesrs312262819
hgdprs312262819
ensemblrs312262819
gopubmedrs312262819
geneviewrs312262819
scholarrs312262819
googlers312262819
pharmgkbrs312262819
gwascentralrs312262819
openSNPrs312262819
23andMers312262819
23andMe allrs312262819
SNP Nexus

SNPshotrs312262819
SNPdbers312262819
MSV3drs312262819
GWAS Ctlgrs312262819
Max Magnitude0
ClinVar
Risk rs312262819(C;C)
Alt rs312262819(C;C)
Reference rs312262819(T;T)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754759T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034003.2,