chr1:226564691:T>C Detail (hg19) (PARP1)

Information

Genome

Assembly Position
hg19 chr1:226,564,691-226,564,691
hg38 chr1:226,376,990-226,376,990 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001618.3:c.1941+118A>G
Ensemble ENST00000366794.10:c.1941+118A>G
ENST00000677203.1:c.1941+118A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.220
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 173870 OMIM
HGNC 270 HGNC
Ensembl ENSG00000143799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5017821 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
0.125 melanoma Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated wit... BeFree 23537197 Detail
0.011 melanoma Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated wit... BeFree 23537197 Detail
0.125 melanoma Genome-wide association study identifies a new melanoma susceptibility locus at ... GWASCAT 21983785 Detail
0.125 melanoma [Genome-wide association study identifies a new melanoma susceptibility locus at... GAD 21983785 Detail
Annotation

Annotations

DescrptionSourceLinks
Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptib... DisGeNET Detail
Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptib... DisGeNET Detail
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. DisGeNET Detail
[Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3219090 dbSNP
Genome
hg19
Position
chr1:226,564,691-226,564,691
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs3219090
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2197
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3683
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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