rs373740199

Orientation

plus

Stabilized

plus

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

Make rs373740199(C;T)

Make rs373740199(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

63693247

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs373740199
dbSNP (classic)	rs373740199
ClinGen	rs373740199
ebi	rs373740199
HLI	rs373740199
Exac	rs373740199
Gnomad	rs373740199
Varsome	rs373740199
LitVar	rs373740199
Map	rs373740199
PheGenI	rs373740199
Biobank	rs373740199
1000 genomes	rs373740199
hgdp	rs373740199
ensembl	rs373740199
geneview	rs373740199
scholar	rs373740199
google	rs373740199
pharmgkb	rs373740199
gwascentral	rs373740199
openSNP	rs373740199
23andMe	rs373740199
SNPshot	rs373740199
SNPdbe	rs373740199
MSV3d	rs373740199
GWAS Ctlg	rs373740199

Max Magnitude

0

ClinVar
Risk	rs373740199(A;A) rs373740199(T;T)
Alt	rs373740199(A;A) rs373740199(T;T)
Reference	Rs373740199(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita not provided
Variation	info
Gene	RTEL1-TNFRSF6B RTEL1
CLNDBN	Dyskeratosis congenita, autosomal dominant, 4 Dyskeratosis congenita, autosomal recessive, 5 not provided
Reversed	0
HGVS	NC_000020.10:g.62324600C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055639.6, RCV000195729.1, RCV000336673.1,