chr6:32696681:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:32,664,458-32,664,458 View the variant detail on this assembly version.
hg38 chr6:32,696,681-32,696,681

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.808
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
0.001 Lymphoma, Follicular In recent genome-wide association studies (GWAS) of FL, several genetic suscepti... BeFree 23025665 Detail
<0.001 Lymphoma, Follicular The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95... BeFree 22911334 Detail
<0.001 Lymphoma, Large-Cell, Follicular Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were signific... BeFree 23455380 Detail
<0.001 Lymphoma, Follicular We confirmed that FL-protective rs2647012-linked variants, in high linkage diseq... BeFree 24304973 Detail
<0.001 Lymphoma, Follicular Moreover, DRB1*15-DQA1*01-DQB1*06 was highly correlated with an established FL r... BeFree 22296171 Detail
0.005 Lymphoma, Follicular [GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and sugges... GAD 21533074 Detail
0.001 Lymphoma, Non-Hodgkin Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were signific... BeFree 23455380 Detail
0.043 Lupus Erythematosus, Systemic [Differential genetic associations for systemic lupus erythematosus based on ant... GAD 21408207 Detail
0.008 leprosy NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... DisGeNET Detail
In recent genome-wide association studies (GWAS) of FL, several genetic susceptibility loci have bee... DisGeNET Detail
The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95%CI 1.46-2.26; p = 6... DisGeNET Detail
Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... DisGeNET Detail
We confirmed that FL-protective rs2647012-linked variants, in high linkage disequilibrium with the e... DisGeNET Detail
Moreover, DRB1*15-DQA1*01-DQB1*06 was highly correlated with an established FL risk locus, rs2647012... DisGeNET Detail
[GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic su... DisGeNET Detail
Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated wit... DisGeNET Detail
[Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody... DisGeNET Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs2647012 dbSNP
Genome
hg38
Position
chr6:32,696,681-32,696,681
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2647012
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.808
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13542
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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