chr19:11728802:A>G Detail (hg19) (ZNF627)

Information

Genome

Assembly Position
hg19 chr19:11,728,802-11,728,802
hg38 chr19:11,617,987-11,617,987 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001290083.1:c.*98A>G
NM_001290084.1:c.*98A>G
NM_001290085.1:c.*98A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.118
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 612248 OMIM
HGNC 30570 HGNC
Ensembl ENSG00000198551 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61225261 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
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.008 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.010 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
<0.001 Hypercholesterolemia Further examination by multivariable logistic regression analysis with adjustmen... BeFree 18077766 Detail
<0.001 Hypercholesterolemia Further examination by multivariable logistic regression analysis with adjustmen... BeFree 18077766 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... DisGeNET Detail
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4804611 dbSNP
Genome
hg19
Position
chr19:11,728,802-11,728,802
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))
rs4804611
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1178
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1974
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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