rs121917719

Orientation

minus

Stabilized

minus

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

Make rs121917719(C;T)

Make rs121917719(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

113246802

Gene	PAX8, PAX8-AS1

is a	snp
is	mentioned by
dbSNP	rs121917719
dbSNP (classic)	rs121917719
ClinGen	rs121917719
ebi	rs121917719
HLI	rs121917719
Exac	rs121917719
Gnomad	rs121917719
Varsome	rs121917719
LitVar	rs121917719
Map	rs121917719
PheGenI	rs121917719
Biobank	rs121917719
1000 genomes	rs121917719
hgdp	rs121917719
ensembl	rs121917719
geneview	rs121917719
scholar	rs121917719
google	rs121917719
pharmgkb	rs121917719
gwascentral	rs121917719
openSNP	rs121917719
23andMe	rs121917719
SNPshot	rs121917719
SNPdbe	rs121917719
MSV3d	rs121917719
GWAS Ctlg	rs121917719

Max Magnitude

0

OMIM	167415
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121917719(T;T)
Alt	rs121917719(T;T)
Reference	Rs121917719(C;C)
Significance	Pathogenic
Disease	Thyroid agenesis
Variation	info
Gene	PAX8 PAX8-AS1
CLNDBN	Thyroid agenesis
Reversed	1
HGVS	NC_000002.11:g.114004379G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014799.25,