chr6:111995666:A>G Detail (hg19) (FYN)

Information

Genome

Assembly Position
hg19 chr6:111,995,666-111,995,666
hg38 chr6:111,674,463-111,674,463 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_153048.3:c.1240+36T>C
NM_002037.5:c.1405+36T>C
Ensemble ENST00000229471.8:c.1240+36T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.346
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.291

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 137025 OMIM
HGNC 4037 HGNC
Ensembl ENSG00000010810 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26632404 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
0.003 asthma Analysis stratified by asthma-related phenotype revealed an association between ... BeFree 22468730 Detail
0.006 asthma Analysis stratified by asthma-related phenotype revealed an association between ... BeFree 22468730 Detail
Annotation

Annotations

DescrptionSourceLinks
Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... DisGeNET Detail
Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3730353 dbSNP
Genome
hg19
Position
chr6:111,995,666-111,995,666
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs3730353
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3456
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5792
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
2515
East Asian Heterozygous Counts (ExAC)
1759
East Asian Homozygous Counts (ExAC)
378
East Asian Allele Frequency (ExAC)
0.2908859588248901
Chromosome Counts in All Race (ExAC)
119386
Allele Counts in All Race (ExAC)
17484
Heterozygous Counts in All Race (ExAC)
14052
Homozygous Counts in All Race (ExAC)
1716
Allele Frequency in All Race (ExAC)
0.14644933241753638
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