rs104893656

Orientation

minus

Stabilized

minus

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

Make rs104893656(A;C)

Make rs104893656(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

113246826

Gene	PAX8, PAX8-AS1

is a	snp
is	mentioned by
dbSNP	rs104893656
dbSNP (classic)	rs104893656
ClinGen	rs104893656
ebi	rs104893656
HLI	rs104893656
Exac	rs104893656
Gnomad	rs104893656
Varsome	rs104893656
LitVar	rs104893656
Map	rs104893656
PheGenI	rs104893656
Biobank	rs104893656
1000 genomes	rs104893656
hgdp	rs104893656
ensembl	rs104893656
geneview	rs104893656
scholar	rs104893656
google	rs104893656
pharmgkb	rs104893656
gwascentral	rs104893656
openSNP	rs104893656
23andMe	rs104893656
SNPshot	rs104893656
SNPdbe	rs104893656
MSV3d	rs104893656
GWAS Ctlg	rs104893656

Max Magnitude

0

OMIM	167415
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893656(C;C)
Alt	rs104893656(C;C)
Reference	Rs104893656(A;A)
Significance	Pathogenic
Disease	Thyroid agenesis
Variation	info
Gene	PAX8 PAX8-AS1
CLNDBN	Thyroid agenesis
Reversed	1
HGVS	NC_000002.11:g.114004403T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014798.25,