rs121912299

Orientation

plus

Stabilized

plus

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

Make rs121912299(A;A)

Make rs121912299(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154774650

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs121912299
dbSNP (classic)	rs121912299
ClinGen	rs121912299
ebi	rs121912299
HLI	rs121912299
Exac	rs121912299
Gnomad	rs121912299
Varsome	rs121912299
LitVar	rs121912299
Map	rs121912299
PheGenI	rs121912299
Biobank	rs121912299
1000 genomes	rs121912299
hgdp	rs121912299
ensembl	rs121912299
geneview	rs121912299
scholar	rs121912299
google	rs121912299
pharmgkb	rs121912299
gwascentral	rs121912299
openSNP	rs121912299
23andMe	rs121912299
SNPshot	rs121912299
SNPdbe	rs121912299
MSV3d	rs121912299
GWAS Ctlg	rs121912299

Max Magnitude

0

ClinVar
Risk	rs121912299(A;A)
Alt	rs121912299(A;A)
Reference	Rs121912299(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	SNORA56 DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154002925G>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032190.2,

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