chr4:45182527:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr4:45,182,527-45,182,527
hg38 chr4:45,180,510-45,180,510 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.302
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], an... BeFree 19910641 Detail
<0.001 Cardiovascular Diseases Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], an... BeFree 19910641 Detail
<0.001 Cardiovascular Diseases Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], an... BeFree 19910641 Detail
0.006 Cardiovascular Diseases Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], an... BeFree 19910641 Detail
<0.001 Metabolic syndrome X GNPDA2 rs10938397 was also significantly associated with MetS (P(age, sex-adjust... BeFree 21147891 Detail
0.153 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
0.155 obesity Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... BeFree 19164386 Detail
<0.001 Hypertensive disease Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP... BeFree 23588626 Detail
0.791 obesity We have previously demonstrated that three obesity-susceptible single nucleotide... BeFree 21147891 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
<0.001 Hypertensive disease Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP... BeFree 23588626 Detail
<0.001 Inattention In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosph... BeFree 23533005 Detail
<0.001 Hypertensive disease The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC... BeFree 23588626 Detail
<0.001 Obesity, Abdominal Our study replicates the statistically significant association of four SNPs (FTO... BeFree 23424664 Detail
0.791 obesity Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... BeFree 19164386 Detail
<0.001 Inattention In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosph... BeFree 23533005 Detail
0.153 obesity Among those previously identified SNPs, we selected six (rs7138803, rs1805081, r... BeFree 20843981 Detail
0.009 Hypertensive disease The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC... BeFree 23588626 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
0.400 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 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
<0.001 Obesity, Abdominal Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
0.791 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
<0.001 Metabolic syndrome X Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally a... BeFree 24269186 Detail
Annotation

Annotations

DescrptionSourceLinks
Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], and rs10938397 [GNPDA2... DisGeNET Detail
Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], and rs10938397 [GNPDA2... DisGeNET Detail
Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], and rs10938397 [GNPDA2... DisGeNET Detail
Four polymorphisms (rs9939609 [FTO], rs11084753 [KCTD15], rs10838738 [MTCH2], and rs10938397 [GNPDA2... DisGeNET Detail
GNPDA2 rs10938397 was also significantly associated with MetS (P(age, sex-adjusted)=0.011, OR (95% C... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... DisGeNET Detail
Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and ... DisGeNET Detail
We have previously demonstrated that three obesity-susceptible single nucleotide polymorphisms (SNPs... 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
Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and ... DisGeNET Detail
In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene... DisGeNET Detail
The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC4R rs17782313, GNPDA... DisGeNET Detail
Our study replicates the statistically significant association of four SNPs (FTO rs9939609, MC4R rs1... DisGeNET Detail
Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... DisGeNET Detail
In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene... DisGeNET Detail
Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313... DisGeNET Detail
The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC4R rs17782313, GNPDA... DisGeNET Detail
In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... 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
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally associated with risk ... DisGeNET Detail
Gene
-
dbSNP
rs10938397 dbSNP
Genome
hg19
Position
chr4:45,182,527-45,182,527
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))
rs10938397
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3021
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5064
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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