chr6:16396469:C>T Detail (hg19) (ATXN1)

Information

Genome

Assembly Position
hg19 chr6:16,396,469-16,396,469
hg38 chr6:16,396,238-16,396,238 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000332.3:c.-160-67768G>A
NM_001128164.1:c.-160-67768G>A
Ensemble ENST00000244769.8:c.-160-67768G>A
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 601556 OMIM
HGNC 10548 HGNC
Ensembl ENSG00000124788 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 the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
Annotation

Annotations

DescrptionSourceLinks
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs179945 dbSNP
Genome
hg19
Position
chr6:16,396,469-16,396,469
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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