chr17:34255980:AGCTCCTCCTTCTC> Detail (hg38) (CCL2)

Information

Genome

Assembly Position
hg19 chr17:32,582,999-32,583,012 
hg38 chr17:34,255,980-34,255,993

HGVS

Type Transcript Protein
RefSeq NM_002982.3:c.77-242_77-229delAGCTCCTCCTTCTC
Ensemble ENST00000225831.4:c.77-242_77-229delAGCTCCTCCTTCTC
ENST00000580907.6:c.77-242_77-229delAGCTCCTCCTTCTC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.663
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 158105 OMIM
HGNC 10618 HGNC
Ensembl ENSG00000108691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57566091 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
0.207 Kidney Failure, Chronic Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.207 Diabetic Nephropathy Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.015 Kidney Failure, Chronic Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
0.147 Diabetic Nephropathy Most of these eleven genetic variants were involved in GPCR signaling and recept... BeFree 25280384 Detail
Annotation

Annotations

DescrptionSourceLinks
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail
Most of these eleven genetic variants were involved in GPCR signaling and receptor binding pathways ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3917887 dbSNP
Genome
hg38
Position
chr17:34,255,980-34,255,993
Variant Type
snv
Reference Allele
AGCTCCTCCTTCTC
Alternative Allele
-
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))
rs3917887
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6626
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11105
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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