chr9:4289050:C>A Detail (hg38) (GLIS3)

Information

Genome

Assembly Position
hg19 chr9:4,289,050-4,289,050 View the variant detail on this assembly version.
hg38 chr9:4,289,050-4,289,050

HGVS

Type Transcript Protein
RefSeq NM_001042413.1:c.-98-2527G>T
Ensemble ENST00000381971.8:c.-98-2527G>T
ENST00000682749.1:c.-78+10371G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.419
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 610192 OMIM
HGNC 28510 HGNC
Ensembl ENSG00000107249 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35289445 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
0.340 Diabetes Mellitus, Non-Insulin-Dependent In addition to previously reported type 2 diabetes risk variants in TCF7L2 and S... BeFree 21949744 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent In addition to previously reported type 2 diabetes risk variants in TCF7L2 and S... BeFree 21949744 Detail
Annotation

Annotations

DescrptionSourceLinks
In addition to previously reported type 2 diabetes risk variants in TCF7L2 and SLC30A8, SNPs in ADCY... DisGeNET Detail
In addition to previously reported type 2 diabetes risk variants in TCF7L2 and SLC30A8, SNPs in ADCY... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7034200 dbSNP
Genome
hg38
Position
chr9:4,289,050-4,289,050
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs7034200
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4193
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7027
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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