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rs199422246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422246(C;T)
Make rs199422246(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154767020
GeneDKC1, MIR664B, SNORA36A
is asnp
is mentioned by
dbSNPrs199422246
dbSNP (classic)rs199422246
ClinGenrs199422246
ebirs199422246
HLIrs199422246
Exacrs199422246
Gnomadrs199422246
Varsomers199422246
LitVarrs199422246
Maprs199422246
PheGenIrs199422246
Biobankrs199422246
1000 genomesrs199422246
hgdprs199422246
ensemblrs199422246
geneviewrs199422246
scholarrs199422246
googlers199422246
pharmgkbrs199422246
gwascentralrs199422246
openSNPrs199422246
23andMers199422246
SNPshotrs199422246
SNPdbers199422246
MSV3drs199422246
GWAS Ctlgrs199422246
Max Magnitude0
ClinVar
Risk rs199422246(T;T)
Alt rs199422246(T;T)
Reference Rs199422246(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked not specified
Variation info
Gene DKC1 MIR664B SNORA36A
CLNDBN Dyskeratosis congenita X-linked not specified
Reversed 0
HGVS NC_000023.10:g.153995295C>T
CLNSRC HGMD
CLNACC RCV000032201.1, RCV000079663.4,