chr7:129757804:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr7:129,397,644-129,397,644 View the variant detail on this assembly version.
hg38 chr7:129,757,804-129,757,804

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.301
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
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
0.006 Diabetes Mellitus, Non-Insulin-Dependent We demonstrated that the polymorphism in TP53 (rs1042522) was associated with ty... BeFree 21146886 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 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
We demonstrated that the polymorphism in TP53 (rs1042522) was associated with type 2 diabetes, and t... 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
Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes as... DisGeNET Detail
Gene
-
dbSNP
rs1882095 dbSNP
Genome
hg38
Position
chr7:129,757,804-129,757,804
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1882095
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5049
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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