rs1060499781

Orientation

minus

Stabilized

minus

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

Make rs1060499781(-;GG)

Make rs1060499781(GG;GG)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88058846

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs1060499781
dbSNP (classic)	rs1060499781
ClinGen	rs1060499781
ebi	rs1060499781
HLI	rs1060499781
Exac	rs1060499781
Gnomad	rs1060499781
Varsome	rs1060499781
LitVar	rs1060499781
Map	rs1060499781
PheGenI	rs1060499781
Biobank	rs1060499781
1000 genomes	rs1060499781
hgdp	rs1060499781
ensembl	rs1060499781
geneview	rs1060499781
scholar	rs1060499781
google	rs1060499781
pharmgkb	rs1060499781
gwascentral	rs1060499781
openSNP	rs1060499781
23andMe	rs1060499781
SNPshot	rs1060499781
SNPdbe	rs1060499781
MSV3d	rs1060499781
GWAS Ctlg	rs1060499781

Max Magnitude

0

ClinVar
Risk	rs1060499781(GG;GG)
Alt	rs1060499781(GG;GG)
Reference	Rs1060499781(-;-)
Significance	Probable-Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88452623_88452624insCC
CLNSRC
CLNACC	RCV000454358.1,