chr11:113410351:G>C Detail (hg38) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,281,073-113,281,073 View the variant detail on this assembly version.
hg38 chr11:113,410,351-113,410,351

HGVS

Type Transcript Protein
RefSeq NM_016574.3:c.*376C>G
NM_000795.3:c.*376C>G
Ensemble ENST00000346454.7:c.*376C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.431
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 126450 OMIM
HGNC 3023 HGNC
Ensembl ENSG00000149295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44079786 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
0.002 Precocious Puberty [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 polycystic ovary syndrome [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.005 Tobacco use disorder [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 Ovarian Failure, Premature [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 thrombophilia [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.005 obesity [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
0.002 Delayed puberty [A large-scale candidate gene association study of age at menarche and age at na... GAD 20734064 Detail
Annotation

Annotations

DescrptionSourceLinks
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.] DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6279 dbSNP
Genome
hg38
Position
chr11:113,410,351-113,410,351
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))
rs6279
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4308
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7219
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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