rs150726175

Orientation

plus

Stabilized

plus

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

Make rs150726175(A;A)

Make rs150726175(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

9982630

Gene

NMNAT1

is a	snp
is	mentioned by
dbSNP	rs150726175
dbSNP (classic)	rs150726175
ClinGen	rs150726175
ebi	rs150726175
HLI	rs150726175
Exac	rs150726175
Gnomad	rs150726175
Varsome	rs150726175
LitVar	rs150726175
Map	rs150726175
PheGenI	rs150726175
Biobank	rs150726175
1000 genomes	rs150726175
hgdp	rs150726175
ensembl	rs150726175
geneview	rs150726175
scholar	rs150726175
google	rs150726175
pharmgkb	rs150726175
gwascentral	rs150726175
openSNP	rs150726175
23andMe	rs150726175
SNPshot	rs150726175
SNPdbe	rs150726175
MSV3d	rs150726175
GWAS Ctlg	rs150726175

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs150726175(A;A)
Alt	rs150726175(A;A)
Reference	Rs150726175(G;G)
Significance	Other
Disease	Leber congenital amaurosis 9 not provided
Variation	info
Gene	NMNAT1
CLNDBN	Leber congenital amaurosis 9 not provided
Reversed	0
HGVS	NC_000001.10:g.10042688G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030765.2, RCV000255806.1,

[PMID 22842231] Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.