rs387907294

Orientation

plus

Stabilized

plus

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

Make rs387907294(A;A)

Make rs387907294(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

9972098

Gene

NMNAT1

is a	snp
is	mentioned by
dbSNP	rs387907294
dbSNP (classic)	rs387907294
ClinGen	rs387907294
ebi	rs387907294
HLI	rs387907294
Exac	rs387907294
Gnomad	rs387907294
Varsome	rs387907294
LitVar	rs387907294
Map	rs387907294
PheGenI	rs387907294
Biobank	rs387907294
1000 genomes	rs387907294
hgdp	rs387907294
ensembl	rs387907294
geneview	rs387907294
scholar	rs387907294
google	rs387907294
pharmgkb	rs387907294
gwascentral	rs387907294
openSNP	rs387907294
23andMe	rs387907294
SNPshot	rs387907294
SNPdbe	rs387907294
MSV3d	rs387907294
GWAS Ctlg	rs387907294

Max Magnitude

0

ClinVar
Risk	rs387907294(A;A)
Alt	rs387907294(A;A)
Reference	Rs387907294(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 9
Variation	info
Gene	NMNAT1
CLNDBN	Leber congenital amaurosis 9
Reversed	0
HGVS	NC_000001.10:g.10032156G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030771.2,