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rs387907294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907294(A;A)
Make rs387907294(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9972098
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs387907294
ebirs387907294
HLIrs387907294
Exacrs387907294
Varsomers387907294
Maprs387907294
PheGenIrs387907294
hapmaprs387907294
1000 genomesrs387907294
hgdprs387907294
ensemblrs387907294
gopubmedrs387907294
geneviewrs387907294
scholarrs387907294
googlers387907294
pharmgkbrs387907294
gwascentralrs387907294
openSNPrs387907294
23andMers387907294
23andMe allrs387907294
SNP Nexus

SNPshotrs387907294
SNPdbers387907294
MSV3drs387907294
GWAS Ctlgrs387907294
Max Magnitude0
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
CLNACC RCV000030771.2,