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rs137854492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854492(A;G)
Make rs137854492(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773163
GeneDKC1
is asnp
is mentioned by
dbSNPrs137854492
ebirs137854492
HLIrs137854492
Exacrs137854492
Varsomers137854492
Maprs137854492
PheGenIrs137854492
hapmaprs137854492
1000 genomesrs137854492
hgdprs137854492
ensemblrs137854492
gopubmedrs137854492
geneviewrs137854492
scholarrs137854492
googlers137854492
pharmgkbrs137854492
gwascentralrs137854492
openSNPrs137854492
23andMers137854492
23andMe allrs137854492
SNP Nexus

SNPshotrs137854492
SNPdbers137854492
MSV3drs137854492
GWAS Ctlgrs137854492
Max Magnitude0
OMIM300126
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854492(G;G)
Alt rs137854492(G;G)
Reference rs137854492(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154001438A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012353.14,