rs142326926

Orientation

plus

Stabilized

plus

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

Make rs142326926(C;T)

Make rs142326926(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

6426615

Gene

AIPL1

is a	snp
is	mentioned by
dbSNP	rs142326926
dbSNP (classic)	rs142326926
ClinGen	rs142326926
ebi	rs142326926
HLI	rs142326926
Exac	rs142326926
Gnomad	rs142326926
Varsome	rs142326926
LitVar	rs142326926
Map	rs142326926
PheGenI	rs142326926
Biobank	rs142326926
1000 genomes	rs142326926
hgdp	rs142326926
ensembl	rs142326926
geneview	rs142326926
scholar	rs142326926
google	rs142326926
pharmgkb	rs142326926
gwascentral	rs142326926
openSNP	rs142326926
23andMe	rs142326926
SNPshot	rs142326926
SNPdbe	rs142326926
MSV3d	rs142326926
GWAS Ctlg	rs142326926

Max Magnitude

0

ClinVar
Risk	rs142326926(T;T)
Alt	rs142326926(T;T)
Reference	Rs142326926(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 4 not provided
Variation	info
Gene	AIPL1
CLNDBN	Leber congenital amaurosis 4 not provided
Reversed	0
HGVS	NC_000017.10:g.6329935C>T
CLNSRC	ClinVar GeneReviews Retina International
CLNACC	RCV000055941.1, RCV000086234.2,