rs863225188

Orientation

minus

Stabilized

minus

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

Make rs863225188(G;T)

Make rs863225188(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88141034

Gene	CEP290, TMTC3

is a	snp
is	mentioned by
dbSNP	rs863225188
dbSNP (classic)	rs863225188
ClinGen	rs863225188
ebi	rs863225188
HLI	rs863225188
Exac	rs863225188
Gnomad	rs863225188
Varsome	rs863225188
LitVar	rs863225188
Map	rs863225188
PheGenI	rs863225188
Biobank	rs863225188
1000 genomes	rs863225188
hgdp	rs863225188
ensembl	rs863225188
geneview	rs863225188
scholar	rs863225188
google	rs863225188
pharmgkb	rs863225188
gwascentral	rs863225188
openSNP	rs863225188
23andMe	rs863225188
SNPshot	rs863225188
SNPdbe	rs863225188
MSV3d	rs863225188
GWAS Ctlg	rs863225188

Max Magnitude

0

ClinVar
Risk	rs863225188(T;T)
Alt	rs863225188(T;T)
Reference	Rs863225188(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290 TMTC3
CLNDBN	Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88534811C>A
CLNSRC
CLNACC	RCV000201578.1,