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rs121908091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908091(A;A)
Make rs121908091(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position178149715
GeneNHP2
is asnp
is mentioned by
dbSNPrs121908091
ebirs121908091
HLIrs121908091
Exacrs121908091
Varsomers121908091
Maprs121908091
PheGenIrs121908091
hapmaprs121908091
1000 genomesrs121908091
hgdprs121908091
ensemblrs121908091
gopubmedrs121908091
geneviewrs121908091
scholarrs121908091
googlers121908091
pharmgkbrs121908091
gwascentralrs121908091
openSNPrs121908091
23andMers121908091
23andMe allrs121908091
SNP Nexus

SNPshotrs121908091
SNPdbers121908091
MSV3drs121908091
GWAS Ctlgrs121908091
Max Magnitude0
OMIM606470
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908091(A;A)
Alt rs121908091(A;A)
Reference rs121908091(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.177576716A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004503.3, RCV000032278.1,