chr14:35761675:C>G Detail (hg19) (PSMA6, PRORP-PSMA6)

Information

Genome

Assembly Position
hg19 chr14:35,761,675-35,761,675
hg38 chr14:35,292,469-35,292,469 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282234.1:c.19+13751C>G
NM_001282232.1:c.-8C>G
NM_002791.2:c.-8C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.336
ToMMo:0.317
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.363

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602855 OMIM
HGNC 9535 HGNC
Ensembl ENSG00000100902 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50414663 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2009-04-01 no assertion criteria provided Myocardial infarction, susceptibility to germline Detail
Benign 2019-10-18 criteria provided, single submitter PSMA6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cerebrovascular accident In this study, we performed a genetic association study on the single nucleotide... BeFree 18158110 Detail
0.006 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.001 Coronary Arteriosclerosis Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronar... BeFree 23111455 Detail
0.067 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.006 coronary artery disease Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronar... BeFree 23111455 Detail
<0.001 Diabetes Our investigation suggests that -8 C/G variant of PSMA6 gene may be associated w... BeFree 23026512 Detail
<0.001 diabetes mellitus Our investigation suggests that -8 C/G variant of PSMA6 gene may be associated w... BeFree 23026512 Detail
0.003 Coronary heart disease Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronar... BeFree 23111455 Detail
<0.001 asthma However, when male and female study subjects were considered separately, we foun... BeFree 25375907 Detail
0.260 myocardial infarction [The functional variant rs1048990 in PSMA6 is associated with susceptibility to ... GAD 19272601 Detail
0.003 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
<0.001 asthma To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460... BeFree 25375907 Detail
0.260 myocardial infarction The functional variant rs1048990 in PSMA6 is associated with susceptibility to m... BeFree 19272601 Detail
0.003 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.009 Diabetes Mellitus, Non-Insulin-Dependent Validation of the association between PSMA6 -8 C/G polymorphism and type 2 diabe... BeFree 23026512 Detail
0.260 myocardial infarction NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002791.3(PSMA6):c.-8C>G AND Myocardial infarction, susceptibility to ClinVar Detail
NM_002791.3(PSMA6):c.-8C>G AND PSMA6-related disorder ClinVar Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease ris... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease ris... DisGeNET Detail
Our investigation suggests that -8 C/G variant of PSMA6 gene may be associated with T2DM and diabete... DisGeNET Detail
Our investigation suggests that -8 C/G variant of PSMA6 gene may be associated with T2DM and diabete... DisGeNET Detail
Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease ris... DisGeNET Detail
However, when male and female study subjects were considered separately, we found that the CG genoty... DisGeNET Detail
[The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarctio... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 ... DisGeNET Detail
The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
Validation of the association between PSMA6 -8 C/G polymorphism and type 2 diabetes mellitus in Chin... DisGeNET Detail
NA 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
rs1048990 dbSNP
Genome
hg19
Position
chr14:35,761,675-35,761,675
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1122
Mean of sample read depth (HGVD)
17.54
Standard deviation of sample read depth (HGVD)
14.21
Number of reference allele (HGVD)
1489
Number of alternative allele (HGVD)
755
Allele Frequency (HGVD)
0.33645276292335113
Gene Symbol (HGVD)
PSMA6
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))
rs1048990
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3168
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5310
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
3131
East Asian Heterozygous Counts (ExAC)
2016
East Asian Homozygous Counts (ExAC)
557
East Asian Allele Frequency (ExAC)
0.3628041714947856
Chromosome Counts in All Race (ExAC)
120480
Allele Counts in All Race (ExAC)
22272
Heterozygous Counts in All Race (ExAC)
17681
Homozygous Counts in All Race (ExAC)
2295
Allele Frequency in All Race (ExAC)
0.1848605577689243
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