rs121912295

Orientation

plus

Stabilized

plus

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

Make rs121912295(A;A)

Make rs121912295(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154774651

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs121912295
dbSNP (classic)	rs121912295
ClinGen	rs121912295
ebi	rs121912295
HLI	rs121912295
Exac	rs121912295
Gnomad	rs121912295
Varsome	rs121912295
LitVar	rs121912295
Map	rs121912295
PheGenI	rs121912295
Biobank	rs121912295
1000 genomes	rs121912295
hgdp	rs121912295
ensembl	rs121912295
geneview	rs121912295
scholar	rs121912295
google	rs121912295
pharmgkb	rs121912295
gwascentral	rs121912295
openSNP	rs121912295
23andMe	rs121912295
SNPshot	rs121912295
SNPdbe	rs121912295
MSV3d	rs121912295
GWAS Ctlg	rs121912295

Max Magnitude

0

OMIM	300126
Desc
Variant	0005
Related	also

OMIM	305000
Desc
Variant
Related	also

ClinVar
Risk	rs121912295(A;A)
Alt	rs121912295(A;A)
Reference	Rs121912295(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.154002926G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000012342.23,

[PMID 9590285] X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.