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rs121912297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912297(A;G)
Make rs121912297(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765931
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912297
ebirs121912297
HLIrs121912297
Exacrs121912297
Varsomers121912297
Maprs121912297
PheGenIrs121912297
hapmaprs121912297
1000 genomesrs121912297
hgdprs121912297
ensemblrs121912297
gopubmedrs121912297
geneviewrs121912297
scholarrs121912297
googlers121912297
pharmgkbrs121912297
gwascentralrs121912297
openSNPrs121912297
23andMers121912297
23andMe allrs121912297
SNP Nexus

SNPshotrs121912297
SNPdbers121912297
MSV3drs121912297
GWAS Ctlgrs121912297
Max Magnitude0
ClinVar
Risk rs121912297(G;G)
Alt rs121912297(G;G)
Reference rs121912297(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153994206A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000032197.2,


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