rs387907291

Orientation

plus

Stabilized

plus

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

Make rs387907291(A;G)

Make rs387907291(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

9982678

Gene

NMNAT1

is a	snp
is	mentioned by
dbSNP	rs387907291
dbSNP (classic)	rs387907291
ClinGen	rs387907291
ebi	rs387907291
HLI	rs387907291
Exac	rs387907291
Gnomad	rs387907291
Varsome	rs387907291
LitVar	rs387907291
Map	rs387907291
PheGenI	rs387907291
Biobank	rs387907291
1000 genomes	rs387907291
hgdp	rs387907291
ensembl	rs387907291
geneview	rs387907291
scholar	rs387907291
google	rs387907291
pharmgkb	rs387907291
gwascentral	rs387907291
openSNP	rs387907291
23andMe	rs387907291
SNPshot	rs387907291
SNPdbe	rs387907291
MSV3d	rs387907291
GWAS Ctlg	rs387907291

Max Magnitude

0

ClinVar
Risk	rs387907291(G;G)
Alt	rs387907291(G;G)
Reference	Rs387907291(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 9
Variation	info
Gene	NMNAT1
CLNDBN	Leber congenital amaurosis 9
Reversed	0
HGVS	NC_000001.10:g.10042736A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030766.2,