chr6:160082624:C>T Detail (hg38) (IGF2R)

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

Genome

Assembly	Position
hg19	chr6:160,503,656-160,503,656 View the variant detail on this assembly version.
hg38	chr6:160,082,624-160,082,624

HGVS

IGF2R

Type	Transcript	Protein
RefSeq	NM_000876.3:c.5834-1326C>T
Ensemble	ENST00000356956.6:c.5834-1326C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.454
	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

IGF2R

Type	Database	ID	Link
Gene	MIM	147280	OMIM
	HGNC	5467	HGNC
	Ensembl	ENSG00000197081	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv27698331	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	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
<0.001	Malignant Childhood Neoplasm	We determined serum AMH levels (a marker of ovarian reserve) in adult survivors ...	BeFree	23360674	Detail
0.002	thrombophilia	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.002	polycystic ovary syndrome	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.002	Precocious Puberty	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.002	Tobacco use disorder	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.002	Delayed puberty	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.003	Ovarian Failure, Premature	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.005	obesity	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail

Annotation

Annotations

Descrption	Source	Links
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer ...	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail
[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs9457827 dbSNP
Genome: hg38
Position: chr6:160,082,624-160,082,624
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs9457827
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4544
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7616
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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