chr4:71742666:T>G Detail (hg38) (GC)

Information

Genome

Assembly Position
hg19 chr4:72,608,383-72,608,383 View the variant detail on this assembly version.
hg38 chr4:71,742,666-71,742,666

HGVS

Type Transcript Protein
RefSeq NM_000583.3:c.*26-796A>C
NM_001204306.1:c.*26-796A>C
NM_001204307.1:c.*26-796A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.271
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 139200 OMIM
HGNC 4187 HGNC
Ensembl ENSG00000145321 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17429972 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
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
<0.001 hemochromatosis As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... BeFree 23468552 Detail
0.123 Vitamin D Deficiency Common genetic determinants of vitamin D insufficiency: a genome-wide associatio... GWASCAT 20541252 Detail
<0.001 Hepatitis C, Chronic The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 liver carcinoma The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 colon carcinoma In the present study, we investigated the association of three functional gene v... BeFree 23793229 Detail
<0.001 Hepatitis C, Chronic The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 Malignant tumor of colon In the present study, we investigated the association of three functional gene v... BeFree 23793229 Detail
<0.001 colon carcinoma In the present study, we investigated the association of three functional gene v... BeFree 23793229 Detail
<0.001 liver carcinoma The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 Malignant tumor of colon In the present study, we investigated the association of three functional gene v... BeFree 23793229 Detail
Annotation

Annotations

DescrptionSourceLinks
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... DisGeNET Detail
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
In the present study, we investigated the association of three functional gene variants in GC (rs228... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
In the present study, we investigated the association of three functional gene variants in GC (rs228... DisGeNET Detail
In the present study, we investigated the association of three functional gene variants in GC (rs228... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
In the present study, we investigated the association of three functional gene variants in GC (rs228... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2282679 dbSNP
Genome
hg38
Position
chr4:71,742,666-71,742,666
Variant Type
snv
Reference Allele
T
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))
rs2282679
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2708
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4539
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser