rs199422247

Orientation

plus

Stabilized

plus

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

Make rs199422247(A;A)

Make rs199422247(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154769306

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs199422247
dbSNP (classic)	rs199422247
ClinGen	rs199422247
ebi	rs199422247
HLI	rs199422247
Exac	rs199422247
Gnomad	rs199422247
Varsome	rs199422247
LitVar	rs199422247
Map	rs199422247
PheGenI	rs199422247
Biobank	rs199422247
1000 genomes	rs199422247
hgdp	rs199422247
ensembl	rs199422247
geneview	rs199422247
scholar	rs199422247
google	rs199422247
pharmgkb	rs199422247
gwascentral	rs199422247
openSNP	rs199422247
23andMe	rs199422247
SNPshot	rs199422247
SNPdbe	rs199422247
MSV3d	rs199422247
GWAS Ctlg	rs199422247

Max Magnitude

0

ClinVar
Risk	rs199422247(A;A)
Alt	rs199422247(A;A)
Reference	Rs199422247(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.153997581G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032204.1,