chr3:134866451:C>G Detail (hg19) (EPHB1)

Information

Genome

Assembly Position
hg19 chr3:134,866,451-134,866,451
hg38 chr3:135,147,609-135,147,609 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004441.4:c.1298-6543C>G
Ensemble ENST00000398015.8:c.1298-6543C>G
ENST00000493838.1:c.-20-6543C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.114
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 600600 OMIM
HGNC 3392 HGNC
Ensembl ENSG00000154928 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14325210 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
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs966513 dbSNP
Genome
hg19
Position
chr3:134,866,451-134,866,451
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))
rs966513
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1138
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1908
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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