rs137854491

Orientation

plus

Stabilized

plus

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

Make rs137854491(A;A)

Make rs137854491(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765450

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs137854491
dbSNP (classic)	rs137854491
ClinGen	rs137854491
ebi	rs137854491
HLI	rs137854491
Exac	rs137854491
Gnomad	rs137854491
Varsome	rs137854491
LitVar	rs137854491
Map	rs137854491
PheGenI	rs137854491
Biobank	rs137854491
1000 genomes	rs137854491
hgdp	rs137854491
ensembl	rs137854491
geneview	rs137854491
scholar	rs137854491
google	rs137854491
pharmgkb	rs137854491
gwascentral	rs137854491
openSNP	rs137854491
23andMe	rs137854491
SNPshot	rs137854491
SNPdbe	rs137854491
MSV3d	rs137854491
GWAS Ctlg	rs137854491

Max Magnitude

0

OMIM	300126
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137854491(A;A) rs137854491(G;G)
Alt	rs137854491(A;A) rs137854491(G;G)
Reference	Rs137854491(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993725C>A; NC_000023.10:g.153993725C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012352.16, RCV000032205.1,