chr10:88990206:A>G Detail (hg38) (ACTA2, FAS)

Information

Genome

Assembly Position
hg19 chr10:90,749,963-90,749,963 View the variant detail on this assembly version.
hg38 chr10:88,990,206-88,990,206

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000415557.2:c.-24+733T>C
ENST00000458159.6:c.-24+816T>C
Type Transcript Protein
RefSeq
Ensemble ENST00000690268.1:c.111+627A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.509
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 102620 OMIM
HGNC 130 HGNC
Ensembl ENSG00000107796 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40124933 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 134637 OMIM
HGNC 11920 HGNC
Ensembl ENSG00000026103 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40124933 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-12-06 criteria provided, single submitter Autoimmune lymphoproliferative syndrome type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
0.120 chronic lymphocytic leukemia A genome-wide association study identifies multiple susceptibility loci for chro... GWASCAT 24292274 Detail
0.017 cervix carcinoma CD95 rs1800682 polymorphism and cervical cancer risk: evidence from a meta-analy... BeFree 24114012 Detail
0.012 liver carcinoma The CD95 rs1800682A/G site polymorphism may be associated with hepatocellular ca... BeFree 25723590 Detail
0.003 Malignant tumor of cervix CD95 rs1800682 polymorphism and cervical cancer risk: evidence from a meta-analy... BeFree 24114012 Detail
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
0.128 chronic lymphocytic leukemia A genome-wide association study identifies multiple susceptibility loci for chro... GWASCAT 24292274 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001141945.3(ACTA2):c.-24+733T>C AND Autoimmune lymphoproliferative syndrome type 1 ClinVar Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... DisGeNET Detail
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk... DisGeNET Detail
CD95 rs1800682 polymorphism and cervical cancer risk: evidence from a meta-analysis. DisGeNET Detail
The CD95 rs1800682A/G site polymorphism may be associated with hepatocellular carcinoma susceptibili... DisGeNET Detail
CD95 rs1800682 polymorphism and cervical cancer risk: evidence from a meta-analysis. DisGeNET Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... DisGeNET Detail
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800682 dbSNP
Genome
hg38
Position
chr10:88,990,206-88,990,206
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))
rs1800682
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5094
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8538
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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