rs61757484

Orientation

plus

Stabilized

plus

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

Make rs61757484(A;A)

Make rs61757484(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

6425489

Gene

AIPL1

is a	snp
is	mentioned by
dbSNP	rs61757484
dbSNP (classic)	rs61757484
ClinGen	rs61757484
ebi	rs61757484
HLI	rs61757484
Exac	rs61757484
Gnomad	rs61757484
Varsome	rs61757484
LitVar	rs61757484
Map	rs61757484
PheGenI	rs61757484
Biobank	rs61757484
1000 genomes	rs61757484
hgdp	rs61757484
ensembl	rs61757484
geneview	rs61757484
scholar	rs61757484
google	rs61757484
pharmgkb	rs61757484
gwascentral	rs61757484
openSNP	rs61757484
23andMe	rs61757484
SNPshot	rs61757484
SNPdbe	rs61757484
MSV3d	rs61757484
GWAS Ctlg	rs61757484

Max Magnitude

0

ClinVar
Risk	rs61757484(A;A)
Alt	rs61757484(A;A)
Reference	Rs61757484(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 4 not provided not specified Retinitis Pigmentosa Retinitis Pigmentosa Leber congenital amaurosis
Variation	info
Gene	AIPL1
CLNDBN	Leber congenital amaurosis 4 not provided not specified Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis
Reversed	0
HGVS	NC_000017.10:g.6328809G>A
CLNSRC	ClinVar GeneReviews Retina International
CLNACC	RCV000055938.1, RCV000086212.2, RCV000179481.1, RCV000293349.1, RCV000348234.1, RCV000374765.1,