rs137852835

Orientation

minus

Stabilized

minus

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

Make rs137852835(C;T)

Make rs137852835(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88130324

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs137852835
dbSNP (classic)	rs137852835
ClinGen	rs137852835
ebi	rs137852835
HLI	rs137852835
Exac	rs137852835
Gnomad	rs137852835
Varsome	rs137852835
LitVar	rs137852835
Map	rs137852835
PheGenI	rs137852835
Biobank	rs137852835
1000 genomes	rs137852835
hgdp	rs137852835
ensembl	rs137852835
geneview	rs137852835
scholar	rs137852835
google	rs137852835
pharmgkb	rs137852835
gwascentral	rs137852835
openSNP	rs137852835
23andMe	rs137852835
SNPshot	rs137852835
SNPdbe	rs137852835
MSV3d	rs137852835
GWAS Ctlg	rs137852835

Max Magnitude

0

OMIM	610142
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852835(T;T)
Alt	rs137852835(T;T)
Reference	Rs137852835(C;C)
Significance	Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88524101G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001407.2,