chr10:94775367:A>G Detail (hg38) (CYP2C19)

Information

Genome

Assembly Position
hg19 chr10:96,535,124-96,535,124 View the variant detail on this assembly version.
hg38 chr10:94,775,367-94,775,367

HGVS

Type Transcript Protein
RefSeq NM_000769.2:c.332-23A>G
Ensemble ENST00000371321.9:c.332-23A>G
ENST00000480405.2:c.332-23A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.282
ToMMo:0.299
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.312

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 124020 OMIM
HGNC 2621 HGNC
Ensembl ENSG00000165841 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40259427 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response practice guideline germline Detail
drug response practice guideline germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
CYP2C19*35 AND CYP2C19: no function ClinVar Detail
CYP2C19*2 AND CYP2C19: no function ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12769205 dbSNP
Genome
hg38
Position
chr10:94,775,367-94,775,367
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
834
Mean of sample read depth (HGVD)
26.31
Standard deviation of sample read depth (HGVD)
19.44
Number of reference allele (HGVD)
1197
Number of alternative allele (HGVD)
471
Allele Frequency (HGVD)
0.2823741007194245
Gene Symbol (HGVD)
CYP2C19
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))
rs12769205
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2992
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5015
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8566
East Asian Allele Counts (ExAC)
2676
East Asian Heterozygous Counts (ExAC)
1852
East Asian Homozygous Counts (ExAC)
412
East Asian Allele Frequency (ExAC)
0.3123978519729162
Chromosome Counts in All Race (ExAC)
121004
Allele Counts in All Race (ExAC)
22539
Heterozygous Counts in All Race (ExAC)
17529
Homozygous Counts in All Race (ExAC)
2505
Allele Frequency in All Race (ExAC)
0.1862665697001752
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