rs121912302

Orientation

plus

Stabilized

plus

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

Make rs121912302(A;A)

Make rs121912302(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765480

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912302
dbSNP (classic)	rs121912302
ClinGen	rs121912302
ebi	rs121912302
HLI	rs121912302
Exac	rs121912302
Gnomad	rs121912302
Varsome	rs121912302
LitVar	rs121912302
Map	rs121912302
PheGenI	rs121912302
Biobank	rs121912302
1000 genomes	rs121912302
hgdp	rs121912302
ensembl	rs121912302
geneview	rs121912302
scholar	rs121912302
google	rs121912302
pharmgkb	rs121912302
gwascentral	rs121912302
openSNP	rs121912302
23andMe	rs121912302
SNPshot	rs121912302
SNPdbe	rs121912302
MSV3d	rs121912302
GWAS Ctlg	rs121912302

Max Magnitude

0

ClinVar
Risk	rs121912302(A;A)
Alt	rs121912302(A;A)
Reference	Rs121912302(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993755G>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032191.2,

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