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rs387907290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907290(C;C)
Make rs387907290(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982699
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs387907290
ebirs387907290
HLIrs387907290
Exacrs387907290
Varsomers387907290
Maprs387907290
PheGenIrs387907290
hapmaprs387907290
1000 genomesrs387907290
hgdprs387907290
ensemblrs387907290
gopubmedrs387907290
geneviewrs387907290
scholarrs387907290
googlers387907290
pharmgkbrs387907290
gwascentralrs387907290
openSNPrs387907290
23andMers387907290
23andMe allrs387907290
SNP Nexus

SNPshotrs387907290
SNPdbers387907290
MSV3drs387907290
GWAS Ctlgrs387907290
Max Magnitude0
ClinVar
Risk rs387907290(C;C)
Alt rs387907290(C;C)
Reference rs387907290(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 9
Variation info
Gene NMNAT1
CLNDBN Leber congenital amaurosis 9
Reversed 0
HGVS NC_000001.10:g.10042757T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030763.2,