chr3:186948673:C>T Detail (hg38) (ST6GAL1)

Information

Genome

Assembly Position
hg19 chr3:186,666,461-186,666,461 View the variant detail on this assembly version.
hg38 chr3:186,948,673-186,948,673

HGVS

Type Transcript Protein
RefSeq NM_173216.2:c.-324-15112C>T
NM_173217.2:c.-360-15112C>T
Ensemble ENST00000169298.8:c.-324-15112C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.205
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 109675 OMIM
HGNC 10860 HGNC
Ensembl ENSG00000073849 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15452060 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
0.242 Diabetes Mellitus, Non-Insulin-Dependent In the combined analysis, we identified common genetic variants at six loci (GRB... GWASCAT 21874001 Detail
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
0.242 Diabetes Mellitus, Non-Insulin-Dependent [In the combined analysis, we identified common genetic variants at six loci (GR... GAD 21874001 Detail
Annotation

Annotations

DescrptionSourceLinks
In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A,... DisGeNET Detail
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs16861329 dbSNP
Genome
hg38
Position
chr3:186,948,673-186,948,673
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs16861329
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2049
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3434
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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