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rs200976140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200976140(G;T)
Make rs200976140(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position214641072
GeneCENPF
is asnp
is mentioned by
dbSNPrs200976140
dbSNP (classic)rs200976140
ClinGenrs200976140
ebirs200976140
HLIrs200976140
Exacrs200976140
Gnomadrs200976140
Varsomers200976140
LitVarrs200976140
Maprs200976140
PheGenIrs200976140
Biobankrs200976140
1000 genomesrs200976140
hgdprs200976140
ensemblrs200976140
geneviewrs200976140
scholarrs200976140
googlers200976140
pharmgkbrs200976140
gwascentralrs200976140
openSNPrs200976140
23andMers200976140
SNPshotrs200976140
SNPdbers200976140
MSV3drs200976140
GWAS Ctlgrs200976140
Max Magnitude0
ClinVar
Risk rs200976140(T;T)
Alt rs200976140(T;T)
Reference Rs200976140(G;G)
Significance Pathogenic
Disease Stromme syndrome
Variation info
Gene CENPF
CLNDBN Stromme syndrome
Reversed 0
HGVS NC_000001.10:g.214814415G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210064.2,