chr8:32574851:G>C Detail (hg38) (NRG1)

Information

Genome

Assembly Position
hg19 chr8:32,432,369-32,432,369 View the variant detail on this assembly version.
hg38 chr8:32,574,851-32,574,851

HGVS

Type Transcript Protein
RefSeq NM_001160004.2:c.101-20977G>C
NM_013956.4:c.101-20977G>C
NM_013957.4:c.101-20977G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.784
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 142445 OMIM
HGNC 7997 HGNC
Ensembl ENSG00000157168 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32703771 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
0.124 Papillary thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
0.007 Thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
<0.001 Papillary thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
0.002 Malignant neoplasm of thyroid In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
0.120 Thyroid carcinoma Discovery of common variants associated with low TSH levels and thyroid cancer r... GWASCAT 22267200 Detail
<0.001 Papillary thyroid carcinoma A significant correlation between rs2439302 genotype and relative expression of ... BeFree 25562676 Detail
0.002 Thyroid Neoplasm [Discovery of common variants associated with low TSH levels and thyroid cancer ... GAD 22267200 Detail
Annotation

Annotations

DescrptionSourceLinks
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
Discovery of common variants associated with low TSH levels and thyroid cancer risk. DisGeNET Detail
A significant correlation between rs2439302 genotype and relative expression of NRG1 was detected in... DisGeNET Detail
[Discovery of common variants associated with low TSH levels and thyroid cancer risk.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2439302 dbSNP
Genome
hg38
Position
chr8:32,574,851-32,574,851
Variant Type
snv
Reference Allele
G
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))
rs2439302
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7835
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13131
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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