rs121918544

Orientation

minus

Stabilized

minus

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

Make rs121918544(A;A)

Make rs121918544(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240635

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs121918544
dbSNP (classic)	rs121918544
ClinGen	rs121918544
ebi	rs121918544
HLI	rs121918544
Exac	rs121918544
Gnomad	rs121918544
Varsome	rs121918544
LitVar	rs121918544
Map	rs121918544
PheGenI	rs121918544
Biobank	rs121918544
1000 genomes	rs121918544
hgdp	rs121918544
ensembl	rs121918544
geneview	rs121918544
scholar	rs121918544
google	rs121918544
pharmgkb	rs121918544
gwascentral	rs121918544
openSNP	rs121918544
23andMe	rs121918544
SNPshot	rs121918544
SNPdbe	rs121918544
MSV3d	rs121918544
GWAS Ctlg	rs121918544

Max Magnitude

0

OMIM	604319
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918544(A;A)
Alt	rs121918544(A;A)
Reference	Rs121918544(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita Revesz syndrome
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita, autosomal dominant, 3 Revesz syndrome
Reversed	1
HGVS	NC_000014.8:g.24709841C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005978.4, RCV000005979.2,