chr20:42980415:C>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr20:42,980,415-42,980,415
hg38 chr20:44,351,775-44,351,775 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.458
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
0.608 Diabetes Mellitus, Non-Insulin-Dependent HNF4A promoter P2 polymorphisms rs1884613 and rs2144908, which are in high linka... BeFree 21814221 Detail
<0.001 prediabetes syndrome Prediabetes is associated with HNF-4 α P2 promoter polymorphism rs1884613: a cas... BeFree 25400315 Detail
0.608 Diabetes Mellitus, Non-Insulin-Dependent Combined analysis of both phases demonstrated association between HNF4A P2 SNPs ... BeFree 18728231 Detail
0.608 Diabetes Mellitus, Non-Insulin-Dependent Controversy remains for the association between hepatocyte nuclear factor 4α (HN... BeFree 25400315 Detail
<0.001 cryoglobulinemia Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A... BeFree 25661337 Detail
<0.001 cryoglobulinemia Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A... BeFree 25661337 Detail
0.031 diabetes mellitus Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
0.001 Metabolic syndrome X Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
0.027 Diabetes Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
Annotation

Annotations

DescrptionSourceLinks
HNF4A promoter P2 polymorphisms rs1884613 and rs2144908, which are in high linkage disequilibrium, s... DisGeNET Detail
Prediabetes is associated with HNF-4 α P2 promoter polymorphism rs1884613: a case-control study in H... DisGeNET Detail
Combined analysis of both phases demonstrated association between HNF4A P2 SNPs (rs1884613 and rs214... DisGeNET Detail
Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter po... DisGeNET Detail
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit... DisGeNET Detail
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1884613 dbSNP
Genome
hg19
Position
chr20:42,980,415-42,980,415
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs1884613
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4585
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7684
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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