chr12:111414461:T>G Detail (hg19) (MYL2)

Information

Genome

Assembly Position
hg19 chr12:111,414,461-111,414,461
hg38 chr12:110,976,657-110,976,657 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000713826.1:c.-57+19369A>C
ENST00000713829.1:c.-57+50081A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.162
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 160781 OMIM
HGNC 7583 HGNC
Ensembl ENSG00000111245 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47242669 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
<0.001 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
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
rs12229654 dbSNP
Genome
hg19
Position
chr12:111,414,461-111,414,461
Variant Type
snv
Reference Allele
T
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))
rs12229654
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1619
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2714
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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