chr11:71165625:A>G Detail (hg19) (NADSYN1)

Information

Genome

Assembly Position
hg19 chr11:71,165,625-71,165,625
hg38 chr11:71,454,579-71,454,579 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018161.4:c.86-531A>G
Ensemble ENST00000319023.7:c.86-531A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.326
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 608285 OMIM
HGNC 29832 HGNC
Ensembl ENSG00000172890 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43108078 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
rs7944926 dbSNP
Genome
hg19
Position
chr11:71,165,625-71,165,625
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))
rs7944926
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3262
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5466
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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