Have questions? Visit https://www.reddit.com/r/SNPedia

rs199422243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422243(A;G)
Make rs199422243(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765486
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422243
ebirs199422243
HLIrs199422243
Exacrs199422243
Varsomers199422243
Maprs199422243
PheGenIrs199422243
hapmaprs199422243
1000 genomesrs199422243
hgdprs199422243
ensemblrs199422243
gopubmedrs199422243
geneviewrs199422243
scholarrs199422243
googlers199422243
pharmgkbrs199422243
gwascentralrs199422243
openSNPrs199422243
23andMers199422243
23andMe allrs199422243
SNP Nexus

SNPshotrs199422243
SNPdbers199422243
MSV3drs199422243
GWAS Ctlgrs199422243
Max Magnitude0
ClinVar
Risk rs199422243(G;G)
Alt rs199422243(G;G)
Reference rs199422243(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.153993761A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032194.1,