chr6:131891554:A>G Detail (hg38) (ENPP1)

Information

Genome

Assembly Position
hg19 chr6:132,212,694-132,212,694 View the variant detail on this assembly version.
hg38 chr6:131,891,554-131,891,554

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647893.1:c.*1043A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.629
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 173335 OMIM
HGNC 3356 HGNC
Ensembl ENSG00000197594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27055597 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-02-01 no assertion criteria provided obesity germline Detail
Benign 2017-04-27 criteria provided, single submitter Arterial calcification, generalized, of infancy, 1 germline Detail
Benign 2017-04-27 criteria provided, single submitter Hypophosphatemic rickets, autosomal recessive, 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.280 obesity NA CLINVAR Detail
0.280 obesity Furthermore, we found nominal associations between obesity risk or BMI variation... BeFree 23375129 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006208.3(ENPP1):c.*1043A>G AND Obesity ClinVar Detail
NM_006208.3(ENPP1):c.*1043A>G AND Arterial calcification, generalized, of infancy, 1 ClinVar Detail
NM_006208.3(ENPP1):c.*1043A>G AND Hypophosphatemic rickets, autosomal recessive, 2 ClinVar Detail
NA DisGeNET Detail
Furthermore, we found nominal associations between obesity risk or BMI variation and the following S... 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
rs7754561 dbSNP
Genome
hg38
Position
chr6:131,891,554-131,891,554
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))
rs7754561
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6288
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10539
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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