chr1:212591502:C>T Detail (hg38) (ATF3)

Go to:

Information

Genome

Assembly	Position
hg19	chr1:212,764,844-212,764,844 View the variant detail on this assembly version.
hg38	chr1:212,591,502-212,591,502

Type	Transcript	Protein
RefSeq	NM_001030287.3:c.-4-23516C>T
Ensemble	ENST00000366987.6:c.-4-23516C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	603148	OMIM
	HGNC	785	HGNC
	Ensembl	ENSG00000162772	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4705779	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	Maternal hypertension	Gene-environment interactions were identified for rs523349 in SRD5A2 with estrog...	BeFree	23088992	Detail
<0.001	Maternal hypertension	Gene-environment interactions were identified for rs523349 in SRD5A2 with estrog...	BeFree	23088992	Detail

Annotation

Descrption	Source	Links
Gene-environment interactions were identified for rs523349 in SRD5A2 with estrogen exposure and mate...	DisGeNET	Detail
Gene-environment interactions were identified for rs523349 in SRD5A2 with estrogen exposure and mate...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11119982 dbSNP
Genome: hg38
Position: chr1:212,591,502-212,591,502
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)): rs11119982
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2353
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 3944
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser