chr12:111350655:A>G Detail (hg19) (MYL2)

Information

Genome

Assembly Position
hg19 chr12:111,350,655-111,350,655
hg38 chr12:110,912,851-110,912,851 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000432.3:c.402+245T>C
Ensemble ENST00000713801.1:c.297+245T>C
ENST00000713803.1:c.402+245T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.179
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 160781 OMIM
HGNC 7583 HGNC
Ensembl ENSG00000111245 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47241087 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Coronary heart disease A genome-wide association study of a coronary artery disease risk variant. GWASCAT 23364394 Detail
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.120 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.333 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000432.4(MYL2):c.402+245T>C AND not provided ClinVar Detail
A genome-wide association study of a coronary artery disease risk variant. DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3782889 dbSNP
Genome
hg19
Position
chr12:111,350,655-111,350,655
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))
rs3782889
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1788
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2996
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser