rs387907292

Orientation

plus

Stabilized

plus

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

Make rs387907292(G;T)

Make rs387907292(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

9982312

Gene

NMNAT1

is a	snp
is	mentioned by
dbSNP	rs387907292
dbSNP (classic)	rs387907292
ClinGen	rs387907292
ebi	rs387907292
HLI	rs387907292
Exac	rs387907292
Gnomad	rs387907292
Varsome	rs387907292
LitVar	rs387907292
Map	rs387907292
PheGenI	rs387907292
Biobank	rs387907292
1000 genomes	rs387907292
hgdp	rs387907292
ensembl	rs387907292
geneview	rs387907292
scholar	rs387907292
google	rs387907292
pharmgkb	rs387907292
gwascentral	rs387907292
openSNP	rs387907292
23andMe	rs387907292
SNPshot	rs387907292
SNPdbe	rs387907292
MSV3d	rs387907292
GWAS Ctlg	rs387907292

Max Magnitude

0

ClinVar
Risk	rs387907292(T;T)
Alt	rs387907292(T;T)
Reference	Rs387907292(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.10042370G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030767.2,