Have questions? Visit https://www.reddit.com/r/SNPedia

rs150726175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150726175(A;A)
Make rs150726175(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982630
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs150726175
ebirs150726175
HLIrs150726175
Exacrs150726175
Varsomers150726175
Maprs150726175
PheGenIrs150726175
hapmaprs150726175
1000 genomesrs150726175
hgdprs150726175
ensemblrs150726175
gopubmedrs150726175
geneviewrs150726175
scholarrs150726175
googlers150726175
pharmgkbrs150726175
gwascentralrs150726175
openSNPrs150726175
23andMers150726175
23andMe allrs150726175
SNP Nexus

SNPshotrs150726175
SNPdbers150726175
MSV3drs150726175
GWAS Ctlgrs150726175
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs150726175(A;A)
Alt rs150726175(A;A)
Reference rs150726175(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.10042688G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030765.2,


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