rs121912294

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs121912294(CT;TA)

Make rs121912294(TA;TA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765949

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912294
dbSNP (classic)	rs121912294
ClinGen	rs121912294
ebi	rs121912294
HLI	rs121912294
Exac	rs121912294
Gnomad	rs121912294
Varsome	rs121912294
LitVar	rs121912294
Map	rs121912294
PheGenI	rs121912294
Biobank	rs121912294
1000 genomes	rs121912294
hgdp	rs121912294
ensembl	rs121912294
geneview	rs121912294
scholar	rs121912294
google	rs121912294
pharmgkb	rs121912294
gwascentral	rs121912294
openSNP	rs121912294
23andMe	rs121912294
SNPshot	rs121912294
SNPdbe	rs121912294
MSV3d	rs121912294
GWAS Ctlg	rs121912294

Max Magnitude

0

OMIM	300126
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912294(TA;TA)
Alt	rs121912294(TA;TA)
Reference	Rs121912294(CT;CT)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153994224_153994225delCTinsTA
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000012341.23,

[PMID 9590285] X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.