chr1:157669278:C>T Detail (hg19) (FCRL3)

Information

Genome

Assembly Position
hg19 chr1:157,669,278-157,669,278
hg38 chr1:157,699,488-157,699,488 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001320333.1:c.52+204G>A
NM_052939.3:c.52+204G>A
Ensemble ENST00000368186.9:c.52+204G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.383
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 606510 OMIM
HGNC 18506 HGNC
Ensembl ENSG00000160856 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3413877 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 neuromyelitis optica The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs22822... BeFree 26402798 Detail
0.249 Graves Disease [A genome-wide association study identifies two new risk loci for Graves\' disea... GAD 21841780 Detail
0.249 Graves Disease A genome-wide association study identifies two new risk loci for Graves' disease... GWASCAT 21841780 Detail
Annotation

Annotations

DescrptionSourceLinks
The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of ... DisGeNET Detail
[A genome-wide association study identifies two new risk loci for Graves\' disease.] DisGeNET Detail
A genome-wide association study identifies two new risk loci for Graves' disease. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3761959 dbSNP
Genome
hg19
Position
chr1:157,669,278-157,669,278
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))
rs3761959
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3829
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6418
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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