rs387907154

Orientation

minus

Stabilized

minus

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

Make rs387907154(C;T)

Make rs387907154(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24240669

Gene

TINF2

is a	snp
is	mentioned by
dbSNP	rs387907154
dbSNP (classic)	rs387907154
ClinGen	rs387907154
ebi	rs387907154
HLI	rs387907154
Exac	rs387907154
Gnomad	rs387907154
Varsome	rs387907154
LitVar	rs387907154
Map	rs387907154
PheGenI	rs387907154
Biobank	rs387907154
1000 genomes	rs387907154
hgdp	rs387907154
ensembl	rs387907154
geneview	rs387907154
scholar	rs387907154
google	rs387907154
pharmgkb	rs387907154
gwascentral	rs387907154
openSNP	rs387907154
23andMe	rs387907154
SNPshot	rs387907154
SNPdbe	rs387907154
MSV3d	rs387907154
GWAS Ctlg	rs387907154

Max Magnitude

0

ClinVar
Risk	rs387907154(T;T)
Alt	rs387907154(T;T)
Reference	Rs387907154(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	TINF2
CLNDBN	Dyskeratosis congenita, autosomal dominant, 3
Reversed	1
HGVS	NC_000014.8:g.24709875G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024250.3,