rs137854492

Orientation

plus

Stabilized

plus

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

Make rs137854492(A;G)

Make rs137854492(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154773163

Gene	DKC1, SNORA56

is a	snp
is	mentioned by
dbSNP	rs137854492
dbSNP (classic)	rs137854492
ClinGen	rs137854492
ebi	rs137854492
HLI	rs137854492
Exac	rs137854492
Gnomad	rs137854492
Varsome	rs137854492
LitVar	rs137854492
Map	rs137854492
PheGenI	rs137854492
Biobank	rs137854492
1000 genomes	rs137854492
hgdp	rs137854492
ensembl	rs137854492
geneview	rs137854492
scholar	rs137854492
google	rs137854492
pharmgkb	rs137854492
gwascentral	rs137854492
openSNP	rs137854492
23andMe	rs137854492
SNPshot	rs137854492
SNPdbe	rs137854492
MSV3d	rs137854492
GWAS Ctlg	rs137854492

Max Magnitude

0

OMIM	300126
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137854492(G;G)
Alt	rs137854492(G;G)
Reference	Rs137854492(A;A)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	SNORA56 DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.154001438A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012353.14,