chr10:114777724:A>G Detail (hg19) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,777,724-114,777,724
hg38 chr10:113,017,965-113,017,965 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198528.1:c.382-22060A>G
NM_030756.4:c.382-22060A>G
NM_001146284.1:c.451-22060A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.079
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 602228 OMIM
HGNC 11641 HGNC
Ensembl ENSG00000148737 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40708106 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 Diabetes Mellitus, Non-Insulin-Dependent We genotyped the TCF7L2 single nucleotide polymorphisms rs7903146 and rs12255372... BeFree 19183934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001367943.1(TCF7L2):c.451-22060A>G AND not provided ClinVar Detail
We genotyped the TCF7L2 single nucleotide polymorphisms rs7903146 and rs12255372 (previously associa... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10885406 dbSNP
Genome
hg19
Position
chr10:114,777,724-114,777,724
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))
rs10885406
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0793
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1329
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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