chr11:14910234:A>G Detail (hg19) (CYP2R1)

Information

Genome

Assembly Position
hg19 chr11:14,910,234-14,910,234
hg38 chr11:14,888,688-14,888,688 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024514.4:c.226-2771T>C
Ensemble ENST00000334636.10:c.226-2771T>C
ENST00000532378.5:c.-66+1744T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.649
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 608713 OMIM
HGNC 20580 HGNC
Ensembl ENSG00000186104 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41712737 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
<0.001 Hepatitis C, Chronic The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 liver carcinoma The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 Hepatitis C, Chronic The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
<0.001 liver carcinoma The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... BeFree 23734184 Detail
Annotation

Annotations

DescrptionSourceLinks
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail
The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1993116 dbSNP
Genome
hg19
Position
chr11:14,910,234-14,910,234
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))
rs1993116
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.649
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10876
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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