chr4:122456825:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr4:123,377,980-123,377,980 View the variant detail on this assembly version.
hg38 chr4:122,456,825-122,456,825

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.335
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
<0.001 Addison's disease due to autoimmunity The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... BeFree 25347332 Detail
<0.001 Autoimmune Primary Adrenal Insufficiency The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... BeFree 25347332 Detail
0.002 prostate carcinoma We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.007 Malignant neoplasm of prostate We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.017 Autoimmune Diseases We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.002 measles Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs180089... BeFree 21875636 Detail
<0.001 measles Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs180089... BeFree 21875636 Detail
<0.001 Helicobacter pylori infection Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1... BeFree 21649724 Detail
0.001 Helicobacter pylori infection Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1... BeFree 21649724 Detail
0.027 Diabetes Mellitus, Insulin-Dependent [Eleven of 52 non-MHC T1D loci showed evidence of association with at least one ... GAD 21829393 Detail
0.030 multiple sclerosis We undertook this study to investigate the potential role of polymorphisms rs313... BeFree 19523143 Detail
Annotation

Annotations

DescrptionSourceLinks
The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... DisGeNET Detail
The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... DisGeNET Detail
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs1800890 and rs2069762) dem... DisGeNET Detail
Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs1800890 and rs2069762) dem... DisGeNET Detail
Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1.45, 95% CI 0.95, 2.... DisGeNET Detail
Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1.45, 95% CI 0.95, 2.... DisGeNET Detail
[Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a fa... DisGeNET Detail
We undertook this study to investigate the potential role of polymorphisms rs3136534, rs6822844 and ... DisGeNET Detail
Gene
-
dbSNP
rs2069762 dbSNP
Genome
hg38
Position
chr4:122,456,825-122,456,825
Variant Type
snv
Reference Allele
A
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))
rs2069762
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3345
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5607
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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