chr7:48016717:T>G Detail (hg19) (HUS1)

Information

Genome

Assembly Position
hg19 chr7:48,016,717-48,016,717
hg38 chr7:47,977,120-47,977,120 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004507.3:c.358-283A>C
NR_037917.1:c.358-283A>C
Ensemble ENST00000258774.10:c.358-283A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.500
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 603760 OMIM
HGNC 5309 HGNC
Ensembl ENSG00000136273 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29193560 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
0.003 ovarian carcinoma The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.006 Malignant neoplasm of ovary The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.002 ovarian carcinoma The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.007 Malignant neoplasm of ovary The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
Annotation

Annotations

DescrptionSourceLinks
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2708861 dbSNP
Genome
hg19
Position
chr7:48,016,717-48,016,717
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))
rs2708861
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4996
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8372
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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