chr14:80678266:C>G Detail (hg19) (DIO2)

Information

Genome

Assembly Position
hg19 chr14:80,678,266-80,678,266
hg38 chr14:80,211,923-80,211,923 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000793.5:c.-53-398G>C
Ensemble ENST00000557010.5:c.-53-398G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601413 OMIM
HGNC 2884 HGNC
Ensembl ENSG00000211448 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Osteoarthritis of hip Confirmation and replication by association in the additional osteoarthritis stu... BeFree 18334578 Detail
<0.001 Osteoarthritis of hip We observed a significant interaction between carrier status of DIO2 rs12885300 ... BeFree 21400473 Detail
Annotation

Annotations

DescrptionSourceLinks
Confirmation and replication by association in the additional osteoarthritis studies indicated a com... DisGeNET Detail
We observed a significant interaction between carrier status of DIO2 rs12885300 and hip OA character... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12885300 dbSNP
Genome
hg19
Position
chr14:80,678,266-80,678,266
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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