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rs786205697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205697(C;T)
Make rs786205697(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position214657139
GeneCENPF
is asnp
is mentioned by
dbSNPrs786205697
dbSNP (classic)rs786205697
ClinGenrs786205697
ebirs786205697
HLIrs786205697
Exacrs786205697
Gnomadrs786205697
Varsomers786205697
LitVarrs786205697
Maprs786205697
PheGenIrs786205697
Biobankrs786205697
1000 genomesrs786205697
hgdprs786205697
ensemblrs786205697
geneviewrs786205697
scholarrs786205697
googlers786205697
pharmgkbrs786205697
gwascentralrs786205697
openSNPrs786205697
23andMers786205697
SNPshotrs786205697
SNPdbers786205697
MSV3drs786205697
GWAS Ctlgrs786205697
Max Magnitude0
ClinVar
Risk rs786205697(T;T)
Alt rs786205697(T;T)
Reference Rs786205697(C;C)
Significance Pathogenic
Disease Stromme syndrome
Variation info
Gene CENPF
CLNDBN Stromme syndrome
Reversed 0
HGVS NC_000001.10:g.214830482C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170525.3,