chr6:132172368:A>C Detail (hg19) (ENPP1)

Information

Genome

Assembly Position
hg19 chr6:132,172,368-132,172,368
hg38 chr6:131,851,228-131,851,228 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647893.1:c.517A>C ENST00000647893.1:p.Lys173Gln
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.077
ToMMo:0.088
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.099

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 tgv27054208 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign ossification of the posterior longitudinal ligament of the spine (OPLL) unknown MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2016-08-15 no assertion criteria provided Insulin resistance, susceptibility to germline Detail
risk factor 2006-12-01 no assertion criteria provided obesity germline Detail
Benign 2015-04-24 criteria provided, single submitter not specified germline Detail
Benign 2021-07-30 criteria provided, multiple submitters, no conflicts Hypophosphatemic rickets, autosomal recessive, 2 germline Detail
Benign 2021-07-30 criteria provided, multiple submitters, no conflicts Arterial calcification, generalized, of infancy, 1 germline Detail
risk factor 2006-12-01 no assertion criteria provided Diabetes mellitus type 2, susceptibility to germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
Benign 2021-07-30 criteria provided, single submitter Hypopigmentation-punctate palmoplantar keratoderma syndrome germline Detail
no classifications from unflagged records 2023-12-05 no classifications from unflagged records Hypophosphatemic rickets germline Detail
Benign criteria provided, single submitter type 2 diabetes mellitus somatic Detail
Benign 2020-04-23 criteria provided, single submitter ENPP1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.330 Diabetes Mellitus, Non-Insulin-Dependent Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... BeFree 22391941 Detail
<0.001 Cerebrovascular accident One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... BeFree 23422753 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent The K121Q (rs1044498) single nucleotide polymorphism (SNP) in the ENPP1 gene has... BeFree 20091022 Detail
0.120 Insulin resistance, susceptibility to NA CLINVAR Detail
0.003 Cardiovascular Diseases We investigated the role of IR-associated ENPP1 K121Q polymorphism (rs1044498) o... BeFree 21282363 Detail
<0.001 Cerebrovascular accident One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... BeFree 23422753 Detail
0.287 Diabetes Mellitus, Non-Insulin-Dependent Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... BeFree 22391941 Detail
0.012 Diabetic Nephropathy Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associa... BeFree 21198320 Detail
<0.001 Cardiovascular Diseases We investigated the combined role of single nucleotide polymorphisms (SNPs) affe... BeFree 23107043 Detail
0.280 obesity NA CLINVAR Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent Ectoenzyme nucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) inhibits insul... BeFree 19017751 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent NA CLINVAR Detail
0.079 Diabetes Mellitus, Non-Insulin-Dependent Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... BeFree 22391941 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Insulin resistance, susceptibility to ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Obesity ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND not specified ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Hypophosphatemic rickets, autosomal recessive, 2 ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Arterial calcification, generalized, of infancy, 1 ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND not provided ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Hypopigmentation-punctate palmoplantar keratoderma syn... ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Hypophosphatemic rickets ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Type 2 diabetes mellitus ClinVar Detail
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND ENPP1-related disorder ClinVar Detail
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... DisGeNET Detail
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... DisGeNET Detail
The K121Q (rs1044498) single nucleotide polymorphism (SNP) in the ENPP1 gene has shown association w... DisGeNET Detail
NA DisGeNET Detail
We investigated the role of IR-associated ENPP1 K121Q polymorphism (rs1044498) on cardiovascular dis... DisGeNET Detail
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... DisGeNET Detail
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... DisGeNET Detail
Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic ne... DisGeNET Detail
We investigated the combined role of single nucleotide polymorphisms (SNPs) affecting insulin signal... DisGeNET Detail
NA DisGeNET Detail
Ectoenzyme nucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) inhibits insulin signaling, and a ... DisGeNET Detail
NA DisGeNET Detail
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... 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
rs1044498 dbSNP
Genome
hg19
Position
chr6:132,172,368-132,172,368
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1178
Mean of sample read depth (HGVD)
51.47
Standard deviation of sample read depth (HGVD)
26.99
Number of reference allele (HGVD)
2175
Number of alternative allele (HGVD)
181
Allele Frequency (HGVD)
0.0768251273344652
Gene Symbol (HGVD)
ENPP1
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))
rs1044498
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0884
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1482
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
858
East Asian Heterozygous Counts (ExAC)
784
East Asian Homozygous Counts (ExAC)
37
East Asian Allele Frequency (ExAC)
0.09925960203609441
Chromosome Counts in All Race (ExAC)
121346
Allele Counts in All Race (ExAC)
25035
Heterozygous Counts in All Race (ExAC)
15907
Homozygous Counts in All Race (ExAC)
4564
Allele Frequency in All Race (ExAC)
0.20631087963344485
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