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rs387907292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907292(G;T)
Make rs387907292(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982312
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs387907292
ebirs387907292
HLIrs387907292
Exacrs387907292
Varsomers387907292
Maprs387907292
PheGenIrs387907292
hapmaprs387907292
1000 genomesrs387907292
hgdprs387907292
ensemblrs387907292
gopubmedrs387907292
geneviewrs387907292
scholarrs387907292
googlers387907292
pharmgkbrs387907292
gwascentralrs387907292
openSNPrs387907292
23andMers387907292
23andMe allrs387907292
SNP Nexus

SNPshotrs387907292
SNPdbers387907292
MSV3drs387907292
GWAS Ctlgrs387907292
Max Magnitude0
ClinVar
Risk rs387907292(T;T)
Alt rs387907292(T;T)
Reference rs387907292(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.10042370G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030767.2,