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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

MAP2K5

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
Ensemble	ENST00000178640.10:c.1243-12146G>A
	ENST00000354498.9:c.1135-12146G>A
	ENST00000340972.8:c.673-12146G>A
	ENST00000395476.6: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

MAP2K5

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

Descrption	Source	Links
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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