chr4:56920284:G>T Detail (hg38) (REST)

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

Information

Genome

Assembly	Position
hg19	chr4:57,786,450-57,786,450 View the variant detail on this assembly version.
hg38	chr4:56,920,284-56,920,284

HGVS

REST

Type	Transcript	Protein
RefSeq	NM_005612.4:c.982+414G>T
Ensemble	ENST00000309042.12:c.982+414G>T
	ENST00000622863.4:c.586+414G>T
	ENST00000640168.2:c.898+8748G>T
	ENST00000640343.2:c.982+414G>T
	ENST00000675105.1:c.982+414G>T
	ENST00000675341.1:c.535+414G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.709
	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

REST

Type	Database	ID	Link
Gene	MIM	600571	OMIM
	HGNC	9966	HGNC
	Ensembl	ENSG00000084093	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv17092438	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
0.404	age related macular degeneration	In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67...	BeFree	21909106	Detail
0.243	age related macular degeneration	TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ...	BeFree	24235014	Detail
0.480	age related macular degeneration	In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67...	BeFree	21909106	Detail
<0.001	age related macular degeneration	TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ...	BeFree	24235014	Detail
<0.001	age related macular degeneration	TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ...	BeFree	24235014	Detail
<0.001	age related macular degeneration	TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ...	BeFree	24235014	Detail
0.120	age related macular degeneration	TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was ...	BeFree	24235014	Detail
<0.001	age related macular degeneration	Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 i...	BeFree	23868022	Detail
0.003	age related macular degeneration	Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 i...	BeFree	23868022	Detail
<0.001	age related macular degeneration	Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 i...	BeFree	23868022	Detail
0.123	age related macular degeneration	In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67...	GWASCAT	21909106	Detail
0.123	age related macular degeneration	[In addition to CFH (rs800292, P = 4.23 A 10(-15)) and ARMS2 (rs3750847, P = 8.6...	GAD	21909106	Detail
<0.001	age related macular degeneration	Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 i...	BeFree	23868022	Detail
0.123	age related macular degeneration	Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 i...	BeFree	23868022	Detail

Annotation

Annotations

Descrption	Source	Links
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we...	DisGeNET	Detail
TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit...	DisGeNET	Detail
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we...	DisGeNET	Detail
TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit...	DisGeNET	Detail
TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit...	DisGeNET	Detail
TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit...	DisGeNET	Detail
TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated wit...	DisGeNET	Detail
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not f...	DisGeNET	Detail
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not f...	DisGeNET	Detail
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not f...	DisGeNET	Detail
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we...	DisGeNET	Detail
[In addition to CFH (rs800292, P = 4.23 A 10(-15)) and ARMS2 (rs3750847, P = 8.67 A 10(-29)) loci, w...	DisGeNET	Detail
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not f...	DisGeNET	Detail
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not f...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1713985 dbSNP
Genome: hg38
Position: chr4:56,920,284-56,920,284
Variant Type: snv
Reference Allele: G
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)): rs1713985
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7091
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 11884
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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