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rs368062092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368062092(G;T)
Make rs368062092(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982571
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs368062092
ebirs368062092
HLIrs368062092
Exacrs368062092
Varsomers368062092
Maprs368062092
PheGenIrs368062092
hapmaprs368062092
1000 genomesrs368062092
hgdprs368062092
ensemblrs368062092
gopubmedrs368062092
geneviewrs368062092
scholarrs368062092
googlers368062092
pharmgkbrs368062092
gwascentralrs368062092
openSNPrs368062092
23andMers368062092
23andMe allrs368062092
SNP Nexus

SNPshotrs368062092
SNPdbers368062092
MSV3drs368062092
GWAS Ctlgrs368062092
Max Magnitude0
ClinVar
Risk rs368062092(A,T;A,T)
Alt rs368062092(A,T;A,T)
Reference rs368062092(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.10042629G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030769.3,