chr10:94843657:A>G Detail (hg38) (CYP2C19)

Information

Genome

Assembly Position
hg19 chr10:96,603,414-96,603,414 View the variant detail on this assembly version.
hg38 chr10:94,843,657-94,843,657

HGVS

Type Transcript Protein
RefSeq NM_000769.2:c.1149+633A>G
Ensemble ENST00000371321.9:c.1149+633A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.010
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 124020 OMIM
HGNC 2621 HGNC
Ensembl ENSG00000165841 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40261502 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
0.132 endometriosis The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs1159... BeFree 25403437 Detail
Annotation

Annotations

DescrptionSourceLinks
The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients wi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11592737 dbSNP
Genome
hg38
Position
chr10:94,843,657-94,843,657
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))
rs11592737
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.01
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
168
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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