rs375548374

Orientation

plus

Stabilized

plus

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

Make rs375548374(A;A)

Make rs375548374(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88053733

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs375548374
dbSNP (classic)	rs375548374
ClinGen	rs375548374
ebi	rs375548374
HLI	rs375548374
Exac	rs375548374
Gnomad	rs375548374
Varsome	rs375548374
LitVar	rs375548374
Map	rs375548374
PheGenI	rs375548374
Biobank	rs375548374
1000 genomes	rs375548374
hgdp	rs375548374
ensembl	rs375548374
geneview	rs375548374
scholar	rs375548374
google	rs375548374
pharmgkb	rs375548374
gwascentral	rs375548374
openSNP	rs375548374
23andMe	rs375548374
SNPshot	rs375548374
SNPdbe	rs375548374
MSV3d	rs375548374
GWAS Ctlg	rs375548374

Max Magnitude

0

ClinVar
Risk	rs375548374(A;A) rs375548374(T;T)
Alt	rs375548374(A;A) rs375548374(T;T)
Reference	Rs375548374(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	CEP290
CLNDBN	not provided
Reversed	0
HGVS	NC_000012.11:g.88447510G>T
CLNSRC
CLNACC	RCV000415801.1,