chr16:28883241:A>T Detail (hg19) (SH2B1)

Information

Genome

Assembly Position
hg19 chr16:28,883,241-28,883,241
hg38 chr16:28,871,920-28,871,920 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145795.1:c.1450A>T NP_001139267.1:p.Thr484Ser
NM_001308294.1:c.442A>T NP_001295223.1:p.Thr148Ser
NM_001308293.1:c.1450A>T NP_001295222.1:p.Thr484Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 obesity Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr... BeFree 23519644 Detail
0.231 obesity Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr... BeFree 23519644 Detail
<0.001 obesity Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R... BeFree 23519644 Detail
0.278 obesity Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R... BeFree 23519644 Detail
0.278 obesity Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... GWASCAT 23563607 Detail
0.278 obesity The nominal associations of rs925946 and rs7498665 obesity risk variants near th... BeFree 23640704 Detail
0.278 obesity Replication of the SH2B1 rs7498665 association with obesity in a Belgian study p... BeFree 22248999 Detail
0.011 Diabetes Mellitus, Non-Insulin-Dependent SH2B1 rs7498665 associated with type 2 diabetes independently of BMI. BeFree 21912638 Detail
0.155 obesity Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... BeFree 19164386 Detail
0.011 Diabetes Mellitus, Non-Insulin-Dependent In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... BeFree 24528214 Detail
0.153 obesity Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... BeFree 19164386 Detail
0.791 obesity Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... BeFree 19164386 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... BeFree 24528214 Detail
0.155 obesity In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... BeFree 24528214 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... BeFree 24528214 Detail
0.278 obesity In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... BeFree 24528214 Detail
Annotation

Annotations

DescrptionSourceLinks
Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (... DisGeNET Detail
Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (... DisGeNET Detail
Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese... DisGeNET Detail
Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese... DisGeNET Detail
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... DisGeNET Detail
The nominal associations of rs925946 and rs7498665 obesity risk variants near the BDNF and SH2B1 gen... DisGeNET Detail
Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population. DisGeNET Detail
SH2B1 rs7498665 associated with type 2 diabetes independently of BMI. DisGeNET Detail
Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail
Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... DisGeNET Detail
Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr16:28,883,241-28,883,241
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1592858798979828E-4
Chromosome Counts in All Race (ExAC)
121258
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.246878556466378E-6
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