chr4:123329362:G>A Detail (hg19) (ADAD1)

Information

Genome

Assembly Position
hg19 chr4:123,329,362-123,329,362
hg38 chr4:122,408,207-122,408,207 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139243.3:c.848+176G>A
NM_001159285.1:c.848+176G>A
NM_001159295.1:c.794+176G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.104
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
Type Database ID Link
Gene MIM 614130 OMIM
HGNC 30713 HGNC
Ensembl ENSG00000164113 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18492893 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
0.002 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
0.125 ulcerative colitis [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing... GAD 21297633 Detail
0.007 Diabetes Mellitus, Insulin-Dependent [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... GAD 21829393 Detail
0.125 ulcerative colitis Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing ... GWASCAT 21297633 Detail
0.007 Diabetes Mellitus, Insulin-Dependent [Genome-wide association study of 14,000 cases of seven common diseases and 3,00... GAD 17554300 Detail
Annotation

Annotations

DescrptionSourceLinks
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
[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confi... DisGeNET Detail
[Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] DisGeNET Detail
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confir... DisGeNET Detail
[Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17388568 dbSNP
Genome
hg19
Position
chr4:123,329,362-123,329,362
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs17388568
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1042
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1746
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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