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rs137854491

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854491(A;A)
Make rs137854491(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765450
GeneDKC1
is asnp
is mentioned by
dbSNPrs137854491
ebirs137854491
HLIrs137854491
Exacrs137854491
Varsomers137854491
Maprs137854491
PheGenIrs137854491
hapmaprs137854491
1000 genomesrs137854491
hgdprs137854491
ensemblrs137854491
gopubmedrs137854491
geneviewrs137854491
scholarrs137854491
googlers137854491
pharmgkbrs137854491
gwascentralrs137854491
openSNPrs137854491
23andMers137854491
23andMe allrs137854491
SNP Nexus

SNPshotrs137854491
SNPdbers137854491
MSV3drs137854491
GWAS Ctlgrs137854491
Max Magnitude0
OMIM300126
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137854491(A,G;A,G)
Alt rs137854491(A,G;A,G)
Reference rs137854491(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153993725C>A; NC_000023.10:g.153993725C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012352.16, RCV000032205.1,