chr15:68086838:G>A Detail (hg19) (MAP2K5)

Information

Genome

Assembly Position
hg19 chr15:68,086,838-68,086,838
hg38 chr15:67,794,500-67,794,500 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_145160.2:c.1243-12146G>A
NM_001206804.1:c.1135-12146G>A
NM_002757.3:c.1213-12146G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.631
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 602520 OMIM
HGNC 6845 HGNC
Ensembl ENSG00000137764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53374052 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
0.121 obesity The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohort... BeFree 22594783 Detail
0.014 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
<0.001 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.121 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.150 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.162 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.021 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.791 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.126 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
<0.001 obesity Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... BeFree 22041983 Detail
0.153 obesity After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... BeFree 25637721 Detail
0.121 obesity After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... BeFree 25637721 Detail
0.021 obesity After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... BeFree 25637721 Detail
0.791 obesity After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... BeFree 25637721 Detail
Annotation

Annotations

DescrptionSourceLinks
The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Gre... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... DisGeNET Detail
After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... DisGeNET Detail
After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... DisGeNET Detail
After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... DisGeNET Detail
After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2241423 dbSNP
Genome
hg19
Position
chr15:68,086,838-68,086,838
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))
rs2241423
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6308
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10573
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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