chr17:76467306:C>G Detail (hg38) (AANAT)

Information

Genome

Assembly Position
hg19 chr17:74,463,388-74,463,388 View the variant detail on this assembly version.
hg38 chr17:76,467,306-76,467,306

HGVS

Type Transcript Protein
RefSeq NM_001166579.1:c.60+1074C>G
Ensemble ENST00000250615.7:c.60+1074C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.362
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 600950 OMIM
HGNC 19 HGNC
Ensembl ENSG00000129673 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58732194 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 breast carcinoma After applying FPRP and BFDP in women with at least four night shifts, an increa... BeFree 23822714 Detail
<0.001 Malignant neoplasm of breast After applying FPRP and BFDP in women with at least four night shifts, an increa... BeFree 23822714 Detail
<0.001 Unipolar Depression Common variants (MAF &gt; 2%) were included in a case-control association analys... BeFree 20459461 Detail
<0.001 major depressive disorder Common variants (MAF &gt; 2%) were included in a case-control association analys... BeFree 20459461 Detail
Annotation

Annotations

DescrptionSourceLinks
After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast c... DisGeNET Detail
After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast c... DisGeNET Detail
Common variants (MAF &gt; 2%) were included in a case-control association analysis that showed signi... DisGeNET Detail
Common variants (MAF &gt; 2%) were included in a case-control association analysis that showed signi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4238989 dbSNP
Genome
hg38
Position
chr17:76,467,306-76,467,306
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))
rs4238989
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3619
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6065
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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