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rs2728726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs2728726(A;A)
Make rs2728726(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154770804
GeneDKC1
is asnp
is mentioned by
dbSNPrs2728726
ebirs2728726
HLIrs2728726
Exacrs2728726
Varsomers2728726
Maprs2728726
PheGenIrs2728726
hapmaprs2728726
1000 genomesrs2728726
hgdprs2728726
ensemblrs2728726
gopubmedrs2728726
geneviewrs2728726
scholarrs2728726
googlers2728726
pharmgkbrs2728726
gwascentralrs2728726
openSNPrs2728726
23andMers2728726
23andMe allrs2728726
SNP Nexus

SNPshotrs2728726
SNPdbers2728726
MSV3drs2728726
GWAS Ctlgrs2728726
Max Magnitude0
? (A;A) (A;C) (C;C) 28
ClinVar
Risk rs2728726(C,T;C,T)
Alt rs2728726(C,T;C,T)
Reference rs2728726(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 1
HGVS NC_000023.10:g.153999079C>G
CLNSRC UniProtKB (variants)
CLNACC RCV000032209.2,



[PMID 10364516OA-icon.png] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.