rs121912296

Orientation

plus

Stabilized

plus

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

Make rs121912296(A;G)

Make rs121912296(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765474

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912296
dbSNP (classic)	rs121912296
ClinGen	rs121912296
ebi	rs121912296
HLI	rs121912296
Exac	rs121912296
Gnomad	rs121912296
Varsome	rs121912296
LitVar	rs121912296
Map	rs121912296
PheGenI	rs121912296
Biobank	rs121912296
1000 genomes	rs121912296
hgdp	rs121912296
ensembl	rs121912296
geneview	rs121912296
scholar	rs121912296
google	rs121912296
pharmgkb	rs121912296
gwascentral	rs121912296
openSNP	rs121912296
23andMe	rs121912296
SNPshot	rs121912296
SNPdbe	rs121912296
MSV3d	rs121912296
GWAS Ctlg	rs121912296

Max Magnitude

0

ClinVar
Risk	rs121912296(G;G)
Alt	rs121912296(G;G)
Reference	Rs121912296(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993749A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032188.2,

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