rs2728726

Orientation

minus

Stabilized

minus

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

Make rs2728726(G;T)

Make rs2728726(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154770804

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs2728726
dbSNP (classic)	rs2728726
ClinGen	rs2728726
ebi	rs2728726
HLI	rs2728726
Exac	rs2728726
Gnomad	rs2728726
Varsome	rs2728726
LitVar	rs2728726
Map	rs2728726
PheGenI	rs2728726
Biobank	rs2728726
1000 genomes	rs2728726
hgdp	rs2728726
ensembl	rs2728726
geneview	rs2728726
scholar	rs2728726
google	rs2728726
pharmgkb	rs2728726
gwascentral	rs2728726
openSNP	rs2728726
23andMe	rs2728726
SNPshot	rs2728726
SNPdbe	rs2728726
MSV3d	rs2728726
GWAS Ctlg	rs2728726

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs2728726(C;C) rs2728726(T;T)
Alt	rs2728726(C;C) rs2728726(T;T)
Reference	Rs2728726(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	1
HGVS	NC_000023.10:g.153999079C>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032209.2,

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