chr7:95054007:T>G Detail (hg19) (PON2)

Information

Genome

Assembly Position
hg19 chr7:95,054,007-95,054,007
hg38 chr7:95,424,695-95,424,695 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001018161.1:c.75-110A>C
NM_000305.2:c.75-110A>C
Ensemble ENST00000222572.8:c.75-110A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602447 OMIM
HGNC 9205 HGNC
Ensembl ENSG00000105854 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30176170 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Diabetes We examined the relationship between variation at the C311S and A148G polymorphi... BeFree 17096118 Detail
0.002 diabetes mellitus We examined the relationship between variation at the C311S and A148G polymorphi... BeFree 17096118 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000305.3(PON2):c.75-110A>C AND not provided ClinVar Detail
We examined the relationship between variation at the C311S and A148G polymorphisms (together with P... DisGeNET Detail
We examined the relationship between variation at the C311S and A148G polymorphisms (together with P... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12704795 dbSNP
Genome
hg19
Position
chr7:95,054,007-95,054,007
Variant Type
snv
Reference Allele
T
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))
rs12704795
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0029
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
49
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser