chr4:110834110:A>G Detail (hg19) (EGF)

Information

Genome

Assembly Position
hg19 chr4:110,834,110-110,834,110
hg38 chr4:109,912,954-109,912,954 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001963.5:c.-382A>G
NM_001178131.2:c.-382A>G
Ensemble ENST00000265171.10:c.-382A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.711
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 131530 OMIM
HGNC 3229 HGNC
Ensembl ENSG00000138798 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18232967 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter renal hypomagnesemia 4 germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
other 2022-12-10 no assertion criteria provided cholangiocarcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.144 liver carcinoma Additionally, the haplotype T-G constructed by rs11569017 and rs4444903 of the E... BeFree 23790025 Detail
<0.001 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.002 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.005 Cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.002 Cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.006 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.008 liver cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.003 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.006 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.007 liver cirrhosis Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.095 Hepatitis C, Chronic Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.220 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.144 liver carcinoma Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.003 hepatitis C Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs44... BeFree 25504078 Detail
0.083 Hypertensive disease Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with... BeFree 24558090 Detail
0.003 Hypertensive disease Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with... BeFree 24558090 Detail
<0.001 Hepatitis C, Chronic Association between the epidermal growth factor rs4444903 G/G genotype and advan... BeFree 22122913 Detail
<0.001 Chronic viral hepatitis The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associa... BeFree 22122913 Detail
0.002 Cirrhosis The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associa... BeFree 22122913 Detail
0.001 Malignant neoplasm of liver Association between the EGF rs4444903 polymorphism and liver cancer susceptibili... BeFree 25299191 Detail
0.001 Malignant neoplasm of liver The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associa... BeFree 22122913 Detail
0.001 Liver and Intrahepatic Biliary Tract Carcinoma The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associa... BeFree 22122913 Detail
0.007 liver cirrhosis The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associa... BeFree 22122913 Detail
0.001 Fibrosis, Liver The EGF rs4444903 A&gt;G polymorphism may facilitate liver fibrosis progression ... BeFree 22122913 Detail
0.027 Glioma Association between epidermal growth factor gene rs4444903 polymorphism and risk... BeFree 23645212 Detail
0.027 colorectal cancer Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism i... BeFree 21567271 Detail
0.001 hepatitis B Carriage of the EGF rs4444903 A&gt;G functional polymorphism associates with dis... BeFree 22236006 Detail
0.011 colorectal carcinoma Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism i... BeFree 21567271 Detail
0.002 Cirrhosis In conclusion, the EGF rs4444903 A &gt; G polymorphism appears to be associated ... BeFree 22236006 Detail
0.001 Liver and Intrahepatic Biliary Tract Carcinoma Association between the EGF rs4444903 polymorphism and liver cancer susceptibili... BeFree 25299191 Detail
0.007 liver cirrhosis In conclusion, the EGF rs4444903 A &gt; G polymorphism appears to be associated ... BeFree 22236006 Detail
0.018 Carcinogenesis Previous studies showed that EGF rs4444903 polymorphism could result in increase... BeFree 23645212 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001963.6(EGF):c.-382A>G AND Renal hypomagnesemia 4 ClinVar Detail
NM_001963.6(EGF):c.-382A>G AND not provided ClinVar Detail
NM_001963.6(EGF):c.-382A>G AND Cholangiocarcinoma ClinVar Detail
Additionally, the haplotype T-G constructed by rs11569017 and rs4444903 of the EGF gene might increa... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like... DisGeNET Detail
Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with hypertension (allel... DisGeNET Detail
Two additional SNPs, rs4444903 in EGF and rs2305949 in KDR, were associated with hypertension (allel... DisGeNET Detail
Association between the epidermal growth factor rs4444903 G/G genotype and advanced fibrosis at a yo... DisGeNET Detail
The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associated with the develop... DisGeNET Detail
The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associated with the develop... DisGeNET Detail
Association between the EGF rs4444903 polymorphism and liver cancer susceptibility: a meta-analysis ... DisGeNET Detail
The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associated with the develop... DisGeNET Detail
The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associated with the develop... DisGeNET Detail
The epidermal growth factor (EGF) rs4444903 A&gt;G polymorphism has been associated with the develop... DisGeNET Detail
The EGF rs4444903 A&gt;G polymorphism may facilitate liver fibrosis progression in Caucasian patient... DisGeNET Detail
Association between epidermal growth factor gene rs4444903 polymorphism and risk of glioma. DisGeNET Detail
Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the ri... DisGeNET Detail
Carriage of the EGF rs4444903 A&gt;G functional polymorphism associates with disease progression in ... DisGeNET Detail
Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the ri... DisGeNET Detail
In conclusion, the EGF rs4444903 A &gt; G polymorphism appears to be associated with an unfavourable... DisGeNET Detail
Association between the EGF rs4444903 polymorphism and liver cancer susceptibility: a meta-analysis ... DisGeNET Detail
In conclusion, the EGF rs4444903 A &gt; G polymorphism appears to be associated with an unfavourable... DisGeNET Detail
Previous studies showed that EGF rs4444903 polymorphism could result in increased risk of tumorigene... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4444903 dbSNP
Genome
hg19
Position
chr4:110,834,110-110,834,110
Variant Type
snv
Reference Allele
A
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))
rs4444903
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7106
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11909
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser