rs387907293

Orientation

plus

Stabilized

plus

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

Make rs387907293(C;G)

Make rs387907293(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

9982318

Gene

NMNAT1

is a	snp
is	mentioned by
dbSNP	rs387907293
dbSNP (classic)	rs387907293
ClinGen	rs387907293
ebi	rs387907293
HLI	rs387907293
Exac	rs387907293
Gnomad	rs387907293
Varsome	rs387907293
LitVar	rs387907293
Map	rs387907293
PheGenI	rs387907293
Biobank	rs387907293
1000 genomes	rs387907293
hgdp	rs387907293
ensembl	rs387907293
geneview	rs387907293
scholar	rs387907293
google	rs387907293
pharmgkb	rs387907293
gwascentral	rs387907293
openSNP	rs387907293
23andMe	rs387907293
SNPshot	rs387907293
SNPdbe	rs387907293
MSV3d	rs387907293
GWAS Ctlg	rs387907293

Max Magnitude

0

ClinVar
Risk	rs387907293(G;G)
Alt	rs387907293(G;G)
Reference	Rs387907293(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 9
Variation	info
Gene	NMNAT1
CLNDBN	Leber congenital amaurosis 9
Reversed	0
HGVS	NC_000001.10:g.10042376C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030770.3,