chr7:50529166:C>T Detail (hg38) (DDC)

Information

Genome

Assembly Position
hg19 chr7:50,596,864-50,596,864 View the variant detail on this assembly version.
hg38 chr7:50,529,166-50,529,166

HGVS

Type Transcript Protein
RefSeq NM_000790.3:c.570+42G>A
NM_001242890.1:c.570+42G>A
NM_001242888.1:c.336+42G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.357
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.408

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 107930 OMIM
HGNC 2719 HGNC
Ensembl ENSG00000132437 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29251648 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-03-26 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.178 attention deficit hyperactivity disorder We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs... BeFree 24163823 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001082971.2(DDC):c.570+42G>A AND not provided ClinVar Detail
We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3735273 dbSNP
Genome
hg38
Position
chr7:50,529,166-50,529,166
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs3735273
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3566
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5976
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
3514
East Asian Heterozygous Counts (ExAC)
2082
East Asian Homozygous Counts (ExAC)
716
East Asian Allele Frequency (ExAC)
0.40784586815227486
Chromosome Counts in All Race (ExAC)
121328
Allele Counts in All Race (ExAC)
31232
Heterozygous Counts in All Race (ExAC)
22444
Homozygous Counts in All Race (ExAC)
4394
Allele Frequency in All Race (ExAC)
0.2574179084794936
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