rs104893658

Orientation

minus

Stabilized

minus

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

Make rs104893658(G;G)

Make rs104893658(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

113246760

Gene	PAX8, PAX8-AS1

is a	snp
is	mentioned by
dbSNP	rs104893658
dbSNP (classic)	rs104893658
ClinGen	rs104893658
ebi	rs104893658
HLI	rs104893658
Exac	rs104893658
Gnomad	rs104893658
Varsome	rs104893658
LitVar	rs104893658
Map	rs104893658
PheGenI	rs104893658
Biobank	rs104893658
1000 genomes	rs104893658
hgdp	rs104893658
ensembl	rs104893658
geneview	rs104893658
scholar	rs104893658
google	rs104893658
pharmgkb	rs104893658
gwascentral	rs104893658
openSNP	rs104893658
23andMe	rs104893658
SNPshot	rs104893658
SNPdbe	rs104893658
MSV3d	rs104893658
GWAS Ctlg	rs104893658

Max Magnitude

0

OMIM	167415
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893658(G;G)
Alt	rs104893658(G;G)
Reference	Rs104893658(T;T)
Significance	Pathogenic
Disease	Thyroid agenesis
Variation	info
Gene	PAX8 PAX8-AS1
CLNDBN	Thyroid agenesis
Reversed	1
HGVS	NC_000002.11:g.114004337A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014795.24,