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rs387907293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907293(C;G)
Make rs387907293(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982318
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs387907293
ebirs387907293
HLIrs387907293
Exacrs387907293
Varsomers387907293
Maprs387907293
PheGenIrs387907293
hapmaprs387907293
1000 genomesrs387907293
hgdprs387907293
ensemblrs387907293
gopubmedrs387907293
geneviewrs387907293
scholarrs387907293
googlers387907293
pharmgkbrs387907293
gwascentralrs387907293
openSNPrs387907293
23andMers387907293
23andMe allrs387907293
SNP Nexus

SNPshotrs387907293
SNPdbers387907293
MSV3drs387907293
GWAS Ctlgrs387907293
Max Magnitude0
ClinVar
Risk rs387907293(G;G)
Alt rs387907293(G;G)
Reference rs387907293(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 9
Variation info
Gene NMNAT1
CLNDBN Leber congenital amaurosis 9
Reversed 0
HGVS NC_000001.10:g.10042376C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030770.3,