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rs121912304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912304(C;T)
Make rs121912304(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765505
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912304
ebirs121912304
HLIrs121912304
Exacrs121912304
Varsomers121912304
Maprs121912304
PheGenIrs121912304
hapmaprs121912304
1000 genomesrs121912304
hgdprs121912304
ensemblrs121912304
gopubmedrs121912304
geneviewrs121912304
scholarrs121912304
googlers121912304
pharmgkbrs121912304
gwascentralrs121912304
openSNPrs121912304
23andMers121912304
23andMe allrs121912304
SNP Nexus

SNPshotrs121912304
SNPdbers121912304
MSV3drs121912304
GWAS Ctlgrs121912304
Max Magnitude0
OMIM300126
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912304(T;T)
Alt rs121912304(T;T)
Reference rs121912304(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked Hoyeraal Hreidarsson syndrome
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked Hoyeraal Hreidarsson syndrome
Reversed 0
HGVS NC_000023.10:g.153993780C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012349.2, RCV000119101.1,


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