rs386834150

Orientation

minus

Stabilized

minus

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

Make rs386834150(A;A)

Make rs386834150(A;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88140954

Gene	CEP290, TMTC3

is a	snp
is	mentioned by
dbSNP	rs386834150
dbSNP (classic)	rs386834150
ClinGen	rs386834150
ebi	rs386834150
HLI	rs386834150
Exac	rs386834150
Gnomad	rs386834150
Varsome	rs386834150
LitVar	rs386834150
Map	rs386834150
PheGenI	rs386834150
Biobank	rs386834150
1000 genomes	rs386834150
hgdp	rs386834150
ensembl	rs386834150
geneview	rs386834150
scholar	rs386834150
google	rs386834150
pharmgkb	rs386834150
gwascentral	rs386834150
openSNP	rs386834150
23andMe	rs386834150
SNPshot	rs386834150
SNPdbe	rs386834150
MSV3d	rs386834150
GWAS Ctlg	rs386834150

Max Magnitude

0

ClinVar
Risk	rs386834150(A;A)
Alt	rs386834150(A;A)
Reference	Rs386834150(T;T)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290 TMTC3
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88534731A>T
CLNSRC	ClinVar
CLNACC	RCV000050144.1,

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