rs375424292

Orientation

plus

Stabilized

plus

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

Make rs375424292(C;T)

Make rs375424292(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

8

Position

133012017

Gene	LOC105375768, TG

is a	snp
is	mentioned by
dbSNP	rs375424292
dbSNP (classic)	rs375424292
ClinGen	rs375424292
ebi	rs375424292
HLI	rs375424292
Exac	rs375424292
Gnomad	rs375424292
Varsome	rs375424292
LitVar	rs375424292
Map	rs375424292
PheGenI	rs375424292
Biobank	rs375424292
1000 genomes	rs375424292
hgdp	rs375424292
ensembl	rs375424292
geneview	rs375424292
scholar	rs375424292
google	rs375424292
pharmgkb	rs375424292
gwascentral	rs375424292
openSNP	rs375424292
23andMe	rs375424292
SNPshot	rs375424292
SNPdbe	rs375424292
MSV3d	rs375424292
GWAS Ctlg	rs375424292

Max Magnitude

0

ClinVar
Risk	rs375424292(T;T)
Alt	rs375424292(T;T)
Reference	Rs375424292(C;C)
Significance	Pathogenic
Disease	Iodotyrosyl coupling defect
Variation	info
Gene	TG
CLNDBN	Iodotyrosyl coupling defect
Reversed	0
HGVS	NC_000008.10:g.134024262C>T
CLNSRC
CLNACC	RCV000377668.1,