rs137854489

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTT;CTT)	0	common in clinvar
(I;I)	0	common genotype
(TTC;TTC)	0	common in clinvar

Make rs137854489(-;-)

Make rs137854489(-;CTT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765468

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs137854489
dbSNP (classic)	rs137854489
ClinGen	rs137854489
ebi	rs137854489
HLI	rs137854489
Exac	rs137854489
Gnomad	rs137854489
Varsome	rs137854489
LitVar	rs137854489
Map	rs137854489
PheGenI	rs137854489
Biobank	rs137854489
1000 genomes	rs137854489
hgdp	rs137854489
ensembl	rs137854489
geneview	rs137854489
scholar	rs137854489
google	rs137854489
pharmgkb	rs137854489
gwascentral	rs137854489
openSNP	rs137854489
23andMe	rs137854489
SNPshot	rs137854489
SNPdbe	rs137854489
MSV3d	rs137854489
GWAS Ctlg	rs137854489

Max Magnitude

0

OMIM	300126
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137854489(-;-)
Alt	rs137854489(-;-)
Reference	Rs137854489(TTC;TTC)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993743_153993745delCTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012339.24,