rs387906977

Orientation

plus

Stabilized

plus

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

Make rs387906977(C;T)

Make rs387906977(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

95812970

Gene

CEP57

is a	snp
is	mentioned by
dbSNP	rs387906977
dbSNP (classic)	rs387906977
ClinGen	rs387906977
ebi	rs387906977
HLI	rs387906977
Exac	rs387906977
Gnomad	rs387906977
Varsome	rs387906977
LitVar	rs387906977
Map	rs387906977
PheGenI	rs387906977
Biobank	rs387906977
1000 genomes	rs387906977
hgdp	rs387906977
ensembl	rs387906977
geneview	rs387906977
scholar	rs387906977
google	rs387906977
pharmgkb	rs387906977
gwascentral	rs387906977
openSNP	rs387906977
23andMe	rs387906977
SNPshot	rs387906977
SNPdbe	rs387906977
MSV3d	rs387906977
GWAS Ctlg	rs387906977

Max Magnitude

0

ClinVar
Risk	rs387906977(T;T)
Alt	rs387906977(T;T)
Reference	Rs387906977(C;C)
Significance	Pathogenic
Disease	Mosaic variegated aneuploidy syndrome 2
Variation	info
Gene	CEP57
CLNDBN	Mosaic variegated aneuploidy syndrome 2
Reversed	0
HGVS	NC_000011.9:g.95546134C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023670.2,