rs121912303

Orientation

plus

Stabilized

plus

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

Make rs121912303(C;T)

Make rs121912303(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154762970

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912303
dbSNP (classic)	rs121912303
ClinGen	rs121912303
ebi	rs121912303
HLI	rs121912303
Exac	rs121912303
Gnomad	rs121912303
Varsome	rs121912303
LitVar	rs121912303
Map	rs121912303
PheGenI	rs121912303
Biobank	rs121912303
1000 genomes	rs121912303
hgdp	rs121912303
ensembl	rs121912303
geneview	rs121912303
scholar	rs121912303
google	rs121912303
pharmgkb	rs121912303
gwascentral	rs121912303
openSNP	rs121912303
23andMe	rs121912303
SNPshot	rs121912303
SNPdbe	rs121912303
MSV3d	rs121912303
GWAS Ctlg	rs121912303

Max Magnitude

0

ClinVar
Risk	rs121912303(T;T)
Alt	rs121912303(T;T)
Reference	Rs121912303(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153991245C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032202.2,

[PMID 10364516] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.