chr15:77747190:A>G Detail (hg19) (HMG20A)

Information

Genome

Assembly Position
hg19 chr15:77,747,190-77,747,190
hg38 chr15:77,454,848-77,454,848 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018200.3:c.-4-3556A>G
NM_001304504.1:c.-4-3556A>G
NM_001304505.1:c.-4-3556A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.405
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 605534 OMIM
HGNC 5001 HGNC
Ensembl ENSG00000140382 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53619549 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
0.608 Diabetes Mellitus, Non-Insulin-Dependent We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 ... BeFree 23029454 Detail
0.246 Diabetes Mellitus, Non-Insulin-Dependent [In the combined analysis, we identified common genetic variants at six loci (GR... GAD 21874001 Detail
0.246 Diabetes Mellitus, Non-Insulin-Dependent In the combined analysis, we identified common genetic variants at six loci (GRB... GWASCAT 21874001 Detail
0.246 Diabetes Mellitus, Non-Insulin-Dependent A variant in HMG20A--previously identified in South Asians but not Europeans--wa... GWASCAT 22693455 Detail
0.246 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... GWASCAT 24509480 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 controls) for each o... DisGeNET Detail
[In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A... DisGeNET Detail
In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A,... DisGeNET Detail
A variant in HMG20A--previously identified in South Asians but not Europeans--was associated with ty... DisGeNET Detail
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7178572 dbSNP
Genome
hg19
Position
chr15:77,747,190-77,747,190
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))
rs7178572
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4053
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6793
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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