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rs387907291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907291(A;G)
Make rs387907291(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982678
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs387907291
ebirs387907291
HLIrs387907291
Exacrs387907291
Varsomers387907291
Maprs387907291
PheGenIrs387907291
hapmaprs387907291
1000 genomesrs387907291
hgdprs387907291
ensemblrs387907291
gopubmedrs387907291
geneviewrs387907291
scholarrs387907291
googlers387907291
pharmgkbrs387907291
gwascentralrs387907291
openSNPrs387907291
23andMers387907291
23andMe allrs387907291
SNP Nexus

SNPshotrs387907291
SNPdbers387907291
MSV3drs387907291
GWAS Ctlgrs387907291
Max Magnitude0
ClinVar
Risk rs387907291(G;G)
Alt rs387907291(G;G)
Reference rs387907291(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 9
Variation info
Gene NMNAT1
CLNDBN Leber congenital amaurosis 9
Reversed 0
HGVS NC_000001.10:g.10042736A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030766.2,