rs121908090

Orientation

minus

Stabilized

minus

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

Make rs121908090(A;A)

Make rs121908090(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

178149799

Gene

NHP2

is a	snp
is	mentioned by
dbSNP	rs121908090
dbSNP (classic)	rs121908090
ClinGen	rs121908090
ebi	rs121908090
HLI	rs121908090
Exac	rs121908090
Gnomad	rs121908090
Varsome	rs121908090
LitVar	rs121908090
Map	rs121908090
PheGenI	rs121908090
Biobank	rs121908090
1000 genomes	rs121908090
hgdp	rs121908090
ensembl	rs121908090
geneview	rs121908090
scholar	rs121908090
google	rs121908090
pharmgkb	rs121908090
gwascentral	rs121908090
openSNP	rs121908090
23andMe	rs121908090
SNPshot	rs121908090
SNPdbe	rs121908090
MSV3d	rs121908090
GWAS Ctlg	rs121908090

Max Magnitude

0

OMIM	606470
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908090(A;A)
Alt	rs121908090(A;A)
Reference	Rs121908090(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal recessive 1
Variation	info
Gene	NHP2
CLNDBN	Dyskeratosis congenita, autosomal recessive 2 Dyskeratosis congenita autosomal recessive 1
Reversed	1
HGVS	NC_000005.9:g.177576800C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004502.3, RCV000032276.1,