rs869312748

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs869312748(C;T)

Make rs869312748(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

214663729

Gene

CENPF

is a	snp
is	mentioned by
dbSNP	rs869312748
dbSNP (classic)	rs869312748
ClinGen	rs869312748
ebi	rs869312748
HLI	rs869312748
Exac	rs869312748
Gnomad	rs869312748
Varsome	rs869312748
LitVar	rs869312748
Map	rs869312748
PheGenI	rs869312748
Biobank	rs869312748
1000 genomes	rs869312748
hgdp	rs869312748
ensembl	rs869312748
geneview	rs869312748
scholar	rs869312748
google	rs869312748
pharmgkb	rs869312748
gwascentral	rs869312748
openSNP	rs869312748
23andMe	rs869312748
SNPshot	rs869312748
SNPdbe	rs869312748
MSV3d	rs869312748
GWAS Ctlg	rs869312748

Max Magnitude

0

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,