rs1057518950

Orientation

plus

Stabilized

plus

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

Make rs1057518950(C;T)

Make rs1057518950(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

1484815

Gene

TPO

is a	snp
is	mentioned by
dbSNP	rs1057518950
dbSNP (classic)	rs1057518950
ClinGen	rs1057518950
ebi	rs1057518950
HLI	rs1057518950
Exac	rs1057518950
Gnomad	rs1057518950
Varsome	rs1057518950
LitVar	rs1057518950
Map	rs1057518950
PheGenI	rs1057518950
Biobank	rs1057518950
1000 genomes	rs1057518950
hgdp	rs1057518950
ensembl	rs1057518950
geneview	rs1057518950
scholar	rs1057518950
google	rs1057518950
pharmgkb	rs1057518950
gwascentral	rs1057518950
openSNP	rs1057518950
23andMe	rs1057518950
SNPshot	rs1057518950
SNPdbe	rs1057518950
MSV3d	rs1057518950
GWAS Ctlg	rs1057518950

Max Magnitude

0

ClinVar
Risk	rs1057518950(T;T)
Alt	rs1057518950(T;T)
Reference	Rs1057518950(C;C)
Significance	Probable-Pathogenic
Disease	Congenital hypothyroidism Delayed gross motor development Delayed speech and language development Global developmental delay Intellectual disability Protruding tongue Short stature
Variation	info
Gene	TPO
CLNDBN	Congenital hypothyroidism Delayed gross motor development Delayed speech and language development Global developmental delay Intellectual disability, severe Protruding tongue Short stature
Reversed	0
HGVS	NC_000002.11:g.1488587C>T
CLNSRC
CLNACC	RCV000415396.1,