chr11:60091239:A>T Detail (hg38) (MS4A2)

Information

Genome

Assembly Position
hg19 chr11:59,858,712-59,858,712 View the variant detail on this assembly version.
hg38 chr11:60,091,239-60,091,239

HGVS

Type Transcript Protein
RefSeq NM_000139.4:c.321+769A>T
NM_001256916.1:c.186+1418A>T
Ensemble ENST00000278888.8:c.321+769A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.299
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 147138 OMIM
HGNC 7316 HGNC
Ensembl ENSG00000149534 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42709176 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
0.224 asthma Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, ... BeFree 21320344 Detail
0.055 asthma Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, ... BeFree 21320344 Detail
Annotation

Annotations

DescrptionSourceLinks
Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, ... DisGeNET Detail
Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs556917 dbSNP
Genome
hg38
Position
chr11:60,091,239-60,091,239
Variant Type
snv
Reference Allele
A
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))
rs556917
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2994
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5017
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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