chr6:32696074:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:32,663,851-32,663,851 View the variant detail on this assembly version.
hg38 chr6:32,696,074-32,696,074

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.617
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.043 Lupus Erythematosus, Systemic [We identified and then confirmed through replication two new genetic loci for S... GAD 18204098 Detail
0.070 cervix carcinoma Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of H... BeFree 25893807 Detail
0.008 cervix carcinoma Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of H... BeFree 25893807 Detail
0.008 leprosy NA GAD Detail
0.036 Graves Disease [A genome-wide association study identifies two new risk loci for Graves\' disea... GAD 21841780 Detail
<0.001 rheumatoid arthritis None of the SNPs tested was associated with RA susceptibility, except rs7021206 ... BeFree 19714643 Detail
0.051 rheumatoid arthritis [The present genome-wide association study identified KLF12 as a new susceptibil... GAD 18668548 Detail
0.002 Sclerosis [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sy... GAD 21750679 Detail
0.024 rheumatoid arthritis [Genome-wide association study of rheumatoid arthritis in the Spanish population... GAD 18668548 Detail
0.152 systemic scleroderma [Genome-wide association study of systemic sclerosis identifies CD247 as a new s... GAD 20383147 Detail
Annotation

Annotations

DescrptionSourceLinks
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... DisGeNET Detail
Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele... DisGeNET Detail
Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele... DisGeNET Detail
NA DisGeNET Detail
[A genome-wide association study identifies two new risk loci for Graves\' disease.] DisGeNET Detail
None of the SNPs tested was associated with RA susceptibility, except rs7021206 in TRAF1 intron 3 (P... DisGeNET Detail
[The present genome-wide association study identified KLF12 as a new susceptibility gene for RA. The... DisGeNET Detail
[Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.] DisGeNET Detail
[Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk lo... DisGeNET Detail
[Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.... DisGeNET Detail
Gene
-
dbSNP
rs6457617 dbSNP
Genome
hg38
Position
chr6:32,696,074-32,696,074
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6457617
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6167
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10336
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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