chr5:96401720:A>T Detail (hg38) (PCSK1)

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

Genome

Assembly	Position
hg19	chr5:95,737,424-95,737,424 View the variant detail on this assembly version.
hg38	chr5:96,401,720-96,401,720

HGVS

PCSK1

Type	Transcript	Protein
RefSeq	NM_000439.4:c.1197-1534T>A
	NM_001177875.1:c.1056-1534T>A
Ensemble	ENST00000311106.8:c.1197-1534T>A
	ENST00000508626.5:c.1056-1534T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.328
	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

PCSK1

Type	Database	ID	Link
Gene	MIM	162150	OMIM
	HGNC	8743	HGNC
	Ensembl	ENSG00000175426	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv21981267	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	Tobacco use disorder	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.230	obesity	[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
0.002	Delayed puberty	[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
0.003	polycystic ovary syndrome	[A large-scale candidate gene association study of age at menarche and age at na...	GAD	20734064	Detail
0.002	thrombophilia	[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: rs271924 dbSNP
Genome: hg38
Position: chr5:96,401,720-96,401,720
Variant Type: snv
Reference Allele: A
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)): rs271924
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3278
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5494
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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