chr6:131829299:A>G Detail (hg38) (ENPP1)

Information

Genome

Assembly Position
hg19 chr6:132,150,439-132,150,439 View the variant detail on this assembly version.
hg38 chr6:131,829,299-131,829,299

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647893.1:c.241-18477A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.715
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 173335 OMIM
HGNC 3356 HGNC
Ensembl ENSG00000197594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27053657 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
0.006 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
0.370 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
<0.001 gestational diabetes Body mass index associated to rs2021966 ENPP1 polymorphism increases the risk fo... BeFree 25222839 Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent Using SNP- and gene-based analysis methods, we replicated previously reported SN... BeFree 18678618 Detail
Annotation

Annotations

DescrptionSourceLinks
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Body mass index associated to rs2021966 ENPP1 polymorphism increases the risk for gestational diabet... DisGeNET Detail
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2021966 dbSNP
Genome
hg38
Position
chr6:131,829,299-131,829,299
Variant Type
snv
Reference Allele
A
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))
rs2021966
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.715
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11984
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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