rs121912298

Orientation

plus

Stabilized

plus

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

Make rs121912298(A;A)

Make rs121912298(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154773144

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs121912298
dbSNP (classic)	rs121912298
ClinGen	rs121912298
ebi	rs121912298
HLI	rs121912298
Exac	rs121912298
Gnomad	rs121912298
Varsome	rs121912298
LitVar	rs121912298
Map	rs121912298
PheGenI	rs121912298
Biobank	rs121912298
1000 genomes	rs121912298
hgdp	rs121912298
ensembl	rs121912298
geneview	rs121912298
scholar	rs121912298
google	rs121912298
pharmgkb	rs121912298
gwascentral	rs121912298
openSNP	rs121912298
23andMe	rs121912298
SNPshot	rs121912298
SNPdbe	rs121912298
MSV3d	rs121912298
GWAS Ctlg	rs121912298

Max Magnitude

0

ClinVar
Risk	rs121912298(A;A)
Alt	rs121912298(A;A)
Reference	Rs121912298(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.154001419G>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000032183.2,

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