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rs137854489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs137854489(-;-)
Make rs137854489(-;CTT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765468
GeneDKC1
is asnp
is mentioned by
dbSNPrs137854489
ebirs137854489
HLIrs137854489
Exacrs137854489
Varsomers137854489
Maprs137854489
PheGenIrs137854489
hapmaprs137854489
1000 genomesrs137854489
hgdprs137854489
ensemblrs137854489
gopubmedrs137854489
geneviewrs137854489
scholarrs137854489
googlers137854489
pharmgkbrs137854489
gwascentralrs137854489
openSNPrs137854489
23andMers137854489
23andMe allrs137854489
SNP Nexus

SNPshotrs137854489
SNPdbers137854489
MSV3drs137854489
GWAS Ctlgrs137854489
Max Magnitude0
OMIM300126
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854489(;)
Alt rs137854489(;)
Reference rs137854489(TTC;TTC)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153993743_153993745delCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012339.24,