chr6:34302869:A>G Detail (hg19) (NUDT3, RPS10-NUDT3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:34,302,869-34,302,869
hg38	chr6:34,335,092-34,335,092 View the variant detail on this assembly version.

HGVS

NUDT3
RPS10-NUDT3

Type	Transcript	Protein
RefSeq	NM_006703.3:c.210+6770T>C
Ensemble	ENST00000607016.2:c.210+6770T>C

Type	Transcript	Protein
RefSeq	NM_001202470.2:c.567+6770T>C
Ensemble	ENST00000639725.1:c.567+6770T>C
	ENST00000639877.1:c.567+6770T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.573
	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

NUDT3
RPS10-NUDT3

Type	Database	ID	Link
Gene	MIM	609228	OMIM
	HGNC	8050	HGNC
	Ensembl	ENSG00000272325	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv24916057	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	49181	HGNC
	Ensembl	ENSG00000270800	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv24916057	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
<0.001	attention deficit hyperactivity disorder	In the German sample rs206936 in the NUDT3 gene (nudix; nucleoside diphosphate l...	BeFree	23533005	Detail
<0.001	obesity	NUDT3 rs206936 is associated with body mass index in obese Japanese women.	BeFree	23708086	Detail
<0.001	Inattention	In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosph...	BeFree	23533005	Detail
<0.001	Inattention	In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosph...	BeFree	23533005	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

Annotation

Annotations

Descrption	Source	Links
In the German sample rs206936 in the NUDT3 gene (nudix; nucleoside diphosphate linked moiety X-type ...	DisGeNET	Detail
NUDT3 rs206936 is associated with body mass index in obese Japanese women.	DisGeNET	Detail
In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene...	DisGeNET	Detail
In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene...	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

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs206936 dbSNP
Genome: hg19
Position: chr6:34,302,869-34,302,869
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)): rs206936
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.5726
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9596
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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