rs12449580

Orientation

plus

Stabilized

plus

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

Make rs12449580(C;G)

Make rs12449580(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

6433927

Gene

AIPL1

is a	snp
is	mentioned by
dbSNP	rs12449580
dbSNP (classic)	rs12449580
ClinGen	rs12449580
ebi	rs12449580
HLI	rs12449580
Exac	rs12449580
Gnomad	rs12449580
Varsome	rs12449580
LitVar	rs12449580
Map	rs12449580
PheGenI	rs12449580
Biobank	rs12449580
1000 genomes	rs12449580
hgdp	rs12449580
ensembl	rs12449580
geneview	rs12449580
scholar	rs12449580
google	rs12449580
pharmgkb	rs12449580
gwascentral	rs12449580
openSNP	rs12449580
23andMe	rs12449580
SNPshot	rs12449580
SNPdbe	rs12449580
MSV3d	rs12449580
GWAS Ctlg	rs12449580

GMAF

0.2245

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs12449580(G;G) rs12449580(T;T)
Alt	rs12449580(G;G) rs12449580(T;T)
Reference	Rs12449580(C;C)
Significance	Probable-non-pathogenic
Disease	not provided not specified Leber congenital amaurosis Retinitis Pigmentosa Retinitis Pigmentosa
Variation	info
Gene	AIPL1
CLNDBN	not provided not specified Leber congenital amaurosis Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive
Reversed	0
HGVS	NC_000017.10:g.6337247C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000086217.1, RCV000242515.1, RCV000294049.1, RCV000350965.1, RCV000385931.1,