rs386834157

Orientation

minus

Stabilized

minus

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

Make rs386834157(-;-)

Make rs386834157(-;TAGA)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88136697

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834157
dbSNP (classic)	rs386834157
ClinGen	rs386834157
ebi	rs386834157
HLI	rs386834157
Exac	rs386834157
Gnomad	rs386834157
Varsome	rs386834157
LitVar	rs386834157
Map	rs386834157
PheGenI	rs386834157
Biobank	rs386834157
1000 genomes	rs386834157
hgdp	rs386834157
ensembl	rs386834157
geneview	rs386834157
scholar	rs386834157
google	rs386834157
pharmgkb	rs386834157
gwascentral	rs386834157
openSNP	rs386834157
23andMe	rs386834157
SNPshot	rs386834157
SNPdbe	rs386834157
MSV3d	rs386834157
GWAS Ctlg	rs386834157

Max Magnitude

0

ClinVar
Risk	rs386834157(-;-)
Alt	rs386834157(-;-)
Reference	Rs386834157(TAGA;TAGA)
Significance	Pathogenic
Disease	Meckel syndrome type 4 Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4 Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88530474_88530477delTCTA
CLNSRC	ClinVar
CLNACC	RCV000050151.1, RCV000416432.1,

[PMID 17564974] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.