chr2:33476823:T>C Detail (hg38) (RASGRP3)

Information

Genome

Assembly Position
hg19 chr2:33,701,890-33,701,890 View the variant detail on this assembly version.
hg38 chr2:33,476,823-33,476,823

HGVS

Type Transcript Protein
RefSeq NM_170672.2:c.-261+28880T>C
NM_001139488.1:c.-261+116T>C
Ensemble ENST00000402538.7:c.-261+28880T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.135
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 609531 OMIM
HGNC 14545 HGNC
Ensembl ENSG00000152689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6405135 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
0.245 Lupus Erythematosus, Systemic [Genome-wide association study in a Chinese Han population identifies nine new s... GAD 19838193 Detail
0.245 Lupus Erythematosus, Systemic Genome-wide association study in a Chinese Han population identifies nine new su... GWASCAT 19838193 Detail
0.250 Lupus Erythematosus, Systemic Significant associations were found for the single nucleotide polymorphism rs100... BeFree 20516000 Detail
0.246 Lupus Erythematosus, Systemic Significant associations were found for the single nucleotide polymorphism rs100... BeFree 20516000 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... DisGeNET Detail
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci fo... DisGeNET Detail
Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... DisGeNET Detail
Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13385731 dbSNP
Genome
hg38
Position
chr2:33,476,823-33,476,823
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs13385731
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1353
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2267
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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