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rs142968179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142968179(C;T)
Make rs142968179(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position9982480
GeneNMNAT1
is asnp
is mentioned by
dbSNPrs142968179
ebirs142968179
HLIrs142968179
Exacrs142968179
Varsomers142968179
Maprs142968179
PheGenIrs142968179
hapmaprs142968179
1000 genomesrs142968179
hgdprs142968179
ensemblrs142968179
gopubmedrs142968179
geneviewrs142968179
scholarrs142968179
googlers142968179
pharmgkbrs142968179
gwascentralrs142968179
openSNPrs142968179
23andMers142968179
23andMe allrs142968179
SNP Nexus

SNPshotrs142968179
SNPdbers142968179
MSV3drs142968179
GWAS Ctlgrs142968179
Max Magnitude0
ClinVar
Risk rs142968179(T;T)
Alt rs142968179(T;T)
Reference rs142968179(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.10042538C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030764.2,