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rs121908092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908092(C;T)
Make rs121908092(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34342063
GeneNOP10, NUTM1
is asnp
is mentioned by
dbSNPrs121908092
ebirs121908092
HLIrs121908092
Exacrs121908092
Varsomers121908092
Maprs121908092
PheGenIrs121908092
hapmaprs121908092
1000 genomesrs121908092
hgdprs121908092
ensemblrs121908092
gopubmedrs121908092
geneviewrs121908092
scholarrs121908092
googlers121908092
pharmgkbrs121908092
gwascentralrs121908092
openSNPrs121908092
23andMers121908092
23andMe allrs121908092
SNP Nexus

SNPshotrs121908092
SNPdbers121908092
MSV3drs121908092
GWAS Ctlgrs121908092
Max Magnitude0
OMIM606471
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908092(T;T)
Alt rs121908092(T;T)
Reference rs121908092(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal recessive 1
Variation info
Gene NOP10 NUTM1
CLNDBN Dyskeratosis congenita autosomal recessive 1
Reversed 1
HGVS NC_000015.9:g.34634264G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004500.3,