rs121912293

Orientation

plus

Stabilized

plus

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

Make rs121912293(G;G)

Make rs121912293(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765465

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912293
dbSNP (classic)	rs121912293
ClinGen	rs121912293
ebi	rs121912293
HLI	rs121912293
Exac	rs121912293
Gnomad	rs121912293
Varsome	rs121912293
LitVar	rs121912293
Map	rs121912293
PheGenI	rs121912293
Biobank	rs121912293
1000 genomes	rs121912293
hgdp	rs121912293
ensembl	rs121912293
geneview	rs121912293
scholar	rs121912293
google	rs121912293
pharmgkb	rs121912293
gwascentral	rs121912293
openSNP	rs121912293
23andMe	rs121912293
SNPshot	rs121912293
SNPdbe	rs121912293
MSV3d	rs121912293
GWAS Ctlg	rs121912293

Max Magnitude

0

OMIM	300126
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912293(G;G)
Alt	rs121912293(G;G)
Reference	Rs121912293(T;T)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993740T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000012338.23,

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