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rs121912305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912305(A;G)
Make rs121912305(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154766313
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912305
ebirs121912305
HLIrs121912305
Exacrs121912305
Varsomers121912305
Maprs121912305
PheGenIrs121912305
hapmaprs121912305
1000 genomesrs121912305
hgdprs121912305
ensemblrs121912305
gopubmedrs121912305
geneviewrs121912305
scholarrs121912305
googlers121912305
pharmgkbrs121912305
gwascentralrs121912305
openSNPrs121912305
23andMers121912305
23andMe allrs121912305
SNP Nexus

SNPshotrs121912305
SNPdbers121912305
MSV3drs121912305
GWAS Ctlgrs121912305
Max Magnitude0
OMIM300126
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912305(G;G)
Alt rs121912305(G;G)
Reference rs121912305(A;A)
Significance Pathogenic
Disease Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153994588A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012350.2, RCV000055630.23,


[PMID 10583221] Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.