rs62637012

Orientation

minus

Stabilized

minus

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

Make rs62637012(C;C)

Make rs62637012(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

6426684

Gene

AIPL1

is a	snp
is	mentioned by
dbSNP	rs62637012
dbSNP (classic)	rs62637012
ClinGen	rs62637012
ebi	rs62637012
HLI	rs62637012
Exac	rs62637012
Gnomad	rs62637012
Varsome	rs62637012
LitVar	rs62637012
Map	rs62637012
PheGenI	rs62637012
Biobank	rs62637012
1000 genomes	rs62637012
hgdp	rs62637012
ensembl	rs62637012
geneview	rs62637012
scholar	rs62637012
google	rs62637012
pharmgkb	rs62637012
gwascentral	rs62637012
openSNP	rs62637012
23andMe	rs62637012
SNPshot	rs62637012
SNPdbe	rs62637012
MSV3d	rs62637012
GWAS Ctlg	rs62637012

Max Magnitude

0

OMIM	604392
Desc
Variant	0003
Related	also

ClinVar
Risk	rs62637012(C;C)
Alt	rs62637012(C;C)
Reference	Rs62637012(T;T)
Significance	Pathogenic
Disease	Leber congenital amaurosis 4 not provided
Variation	info
Gene	AIPL1
CLNDBN	Leber congenital amaurosis 4 not provided
Reversed	1
HGVS	NC_000017.10:g.6330004A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005908.2, RCV000086231.1,