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rs146700772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs146700772(A;C)
Make rs146700772(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154769233
GeneDKC1
is asnp
is mentioned by
dbSNPrs146700772
ebirs146700772
HLIrs146700772
Exacrs146700772
Varsomers146700772
Maprs146700772
PheGenIrs146700772
hapmaprs146700772
1000 genomesrs146700772
hgdprs146700772
ensemblrs146700772
gopubmedrs146700772
geneviewrs146700772
scholarrs146700772
googlers146700772
pharmgkbrs146700772
gwascentralrs146700772
openSNPrs146700772
23andMers146700772
23andMe allrs146700772
SNP Nexus

SNPshotrs146700772
SNPdbers146700772
MSV3drs146700772
GWAS Ctlgrs146700772
Max Magnitude0
ClinVar
Risk rs146700772(C;C)
Alt rs146700772(C;C)
Reference rs146700772(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.153997508A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032203.1,