chr4:57786450:G>T Detail (hg19) (REST)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_005612.4:c.982+414G>T
Ensemble ENST00000309042.12:c.982+414G>T
ENST00000622863.4:c.586+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
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

DescrptionSourceLinks
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
hg19
Position
chr4:57,786,450-57,786,450
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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