rs371496675

Orientation

plus

Stabilized

plus

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

Make rs371496675(A;T)

Make rs371496675(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

88117076

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs371496675
dbSNP (classic)	rs371496675
ClinGen	rs371496675
ebi	rs371496675
HLI	rs371496675
Exac	rs371496675
Gnomad	rs371496675
Varsome	rs371496675
LitVar	rs371496675
Map	rs371496675
PheGenI	rs371496675
Biobank	rs371496675
1000 genomes	rs371496675
hgdp	rs371496675
ensembl	rs371496675
geneview	rs371496675
scholar	rs371496675
google	rs371496675
pharmgkb	rs371496675
gwascentral	rs371496675
openSNP	rs371496675
23andMe	rs371496675
SNPshot	rs371496675
SNPdbe	rs371496675
MSV3d	rs371496675
GWAS Ctlg	rs371496675

Max Magnitude

0

ClinVar
Risk	rs371496675(T;T)
Alt	rs371496675(T;T)
Reference	Rs371496675(A;A)
Significance	Probable-Pathogenic
Disease	Retinal dystrophy
Variation	info
Gene	CEP290
CLNDBN	Retinal dystrophy
Reversed	0
HGVS	NC_000012.11:g.88510853A>T
CLNSRC
CLNACC	RCV000225634.1,