chr9:28425515:C>G Detail (hg19) (LINGO2)

Information

Genome

Assembly Position
hg19 chr9:28,425,515-28,425,515
hg38 chr9:28,425,517-28,425,517 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001258282.1:c.-279+50423G>C
NM_152570.2:c.-279+50423G>C
Ensemble ENST00000379992.6:c.-279+50423G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.197
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 609793 OMIM
HGNC 21207 HGNC
Ensembl ENSG00000174482 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35932815 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
0.121 obesity Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... GWASCAT 23563607 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1412239 dbSNP
Genome
hg19
Position
chr9:28,425,515-28,425,515
Variant Type
snv
Reference Allele
C
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))
rs1412239
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1968
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3298
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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