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rs869312748

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312748(C;T)
Make rs869312748(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position214663729
GeneCENPF
is asnp
is mentioned by
dbSNPrs869312748
ebirs869312748
HLIrs869312748
Exacrs869312748
Varsomers869312748
Maprs869312748
PheGenIrs869312748
hapmaprs869312748
1000 genomesrs869312748
hgdprs869312748
ensemblrs869312748
gopubmedrs869312748
geneviewrs869312748
scholarrs869312748
googlers869312748
pharmgkbrs869312748
gwascentralrs869312748
openSNPrs869312748
23andMers869312748
23andMe allrs869312748
SNP Nexus

SNPshotrs869312748
SNPdbers869312748
MSV3drs869312748
GWAS Ctlgrs869312748
Max Magnitude0
ClinVar
Risk rs869312748(T;T)
Alt rs869312748(T;T)
Reference rs869312748(C;C)
Significance Pathogenic
Disease Stromme syndrome
Variation info
Gene CENPF
CLNDBN Stromme syndrome
Reversed 0
HGVS NC_000001.10:g.214837072C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210061.1,