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rs121908089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908089(C;C)
Make rs121908089(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position178149760
GeneNHP2
is asnp
is mentioned by
dbSNPrs121908089
ebirs121908089
HLIrs121908089
Exacrs121908089
Varsomers121908089
Maprs121908089
PheGenIrs121908089
hapmaprs121908089
1000 genomesrs121908089
hgdprs121908089
ensemblrs121908089
gopubmedrs121908089
geneviewrs121908089
scholarrs121908089
googlers121908089
pharmgkbrs121908089
gwascentralrs121908089
openSNPrs121908089
23andMers121908089
23andMe allrs121908089
SNP Nexus

SNPshotrs121908089
SNPdbers121908089
MSV3drs121908089
GWAS Ctlgrs121908089
Max Magnitude0
OMIM606470
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908089(C;C)
Alt rs121908089(C;C)
Reference rs121908089(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita autosomal recessive 1
Variation info
Gene NHP2
CLNDBN Dyskeratosis congenita, autosomal recessive 2 Dyskeratosis congenita autosomal recessive 1
Reversed 1
HGVS NC_000005.9:g.177576761A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004501.3, RCV000032277.1,