chr16:28862077:G>A Detail (hg38) (SH2B1)

Information

Genome

Assembly Position
hg19 chr16:28,873,398-28,873,398 View the variant detail on this assembly version.
hg38 chr16:28,862,077-28,862,077

HGVS

Type Transcript Protein
RefSeq NM_001308293.1:c.-171+330G>A
Ensemble ENST00000322610.12:c.-171+330G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.150
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 608937 OMIM
HGNC 30417 HGNC
Ensembl ENSG00000178188 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55189721 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
0.011 Diabetes Mellitus, Non-Insulin-Dependent The SH2B1 tag SNP rs4788102 (SNP, single nucleotide polymorphism) was genotyped ... BeFree 24103803 Detail
<0.001 coronary artery disease We investigated whether SNP rs4788102, which captures the entire SH2B1 variabili... BeFree 21907990 Detail
0.011 Diabetes Mellitus, Non-Insulin-Dependent We investigated whether SNP rs4788102, which captures the entire SH2B1 variabili... BeFree 21907990 Detail
0.003 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.021 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.153 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.278 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
Annotation

Annotations

DescrptionSourceLinks
The SH2B1 tag SNP rs4788102 (SNP, single nucleotide polymorphism) was genotyped in 6978 individuals ... DisGeNET Detail
We investigated whether SNP rs4788102, which captures the entire SH2B1 variability, is associated wi... DisGeNET Detail
We investigated whether SNP rs4788102, which captures the entire SH2B1 variability, is associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4788102 dbSNP
Genome
hg38
Position
chr16:28,862,077-28,862,077
Variant Type
snv
Reference Allele
G
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))
rs4788102
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1501
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2515
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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