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rs121908090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908090(A;A)
Make rs121908090(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position178149799
GeneNHP2
is asnp
is mentioned by
dbSNPrs121908090
ebirs121908090
HLIrs121908090
Exacrs121908090
Varsomers121908090
Maprs121908090
PheGenIrs121908090
hapmaprs121908090
1000 genomesrs121908090
hgdprs121908090
ensemblrs121908090
gopubmedrs121908090
geneviewrs121908090
scholarrs121908090
googlers121908090
pharmgkbrs121908090
gwascentralrs121908090
openSNPrs121908090
23andMers121908090
23andMe allrs121908090
SNP Nexus

SNPshotrs121908090
SNPdbers121908090
MSV3drs121908090
GWAS Ctlgrs121908090
Max Magnitude0
OMIM606470
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908090(A;A)
Alt rs121908090(A;A)
Reference rs121908090(G;G)
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.177576800C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004502.3, RCV000032276.1,