rs757575602

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TGAAAAAACCGAGGGTACAAACCTGAAAA;TGAAAAAACCGAGGGTACAAACCTGAAAA)	0	common in clinvar
(TGAAAATGAAAAAACCGAGGGTACAAACC;TGAAAATGAAAAAACCGAGGGTACAAACC)	0	common in clinvar

Make rs757575602(-;-)

Make rs757575602(-;TGAAAATGAAAAAACCGAGGGTACAAACC)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

214614834

Gene

CENPF

is a	snp
is	mentioned by
dbSNP	rs757575602
dbSNP (classic)	rs757575602
ClinGen	rs757575602
ebi	rs757575602
HLI	rs757575602
Exac	rs757575602
Gnomad	rs757575602
Varsome	rs757575602
LitVar	rs757575602
Map	rs757575602
PheGenI	rs757575602
Biobank	rs757575602
1000 genomes	rs757575602
hgdp	rs757575602
ensembl	rs757575602
geneview	rs757575602
scholar	rs757575602
google	rs757575602
pharmgkb	rs757575602
gwascentral	rs757575602
openSNP	rs757575602
23andMe	rs757575602
SNPshot	rs757575602
SNPdbe	rs757575602
MSV3d	rs757575602
GWAS Ctlg	rs757575602

Merged from

Rs869320756

Max Magnitude

0

ClinVar
Risk	rs757575602(-;-) Rs757575602(TGAAAATGAAAAAACCGAGGGTACAAACC;TGAAAATGAAAAAACCGAGGGTACAAACC)
Alt	rs757575602(-;-) Rs757575602(TGAAAATGAAAAAACCGAGGGTACAAACC;TGAAAATGAAAAAACCGAGGGTACAAACC)
Reference	Rs757575602(TGAAAAAACCGAGGGTACAAACCTGAAAA;TGAAAAAACCGAGGGTACAAACCTGAAAA)
Significance	Pathogenic
Disease	Stromme syndrome
Variation	info
Gene	CENPF
CLNDBN	Stromme syndrome
Reversed	0
HGVS	NC_000001.10:g.214788183_214788211del29
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210068.1,