chr19:48595493:A>G Detail (hg38) (SULT2B1)

Information

Genome

Assembly Position
hg19 chr19:49,098,750-49,098,750 View the variant detail on this assembly version.
hg38 chr19:48,595,493-48,595,493

HGVS

Type Transcript Protein
RefSeq NM_177973.1:c.646-1246A>G
NM_004605.2:c.601-1246A>G
Ensemble ENST00000201586.7:c.646-1246A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.434
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 604125 OMIM
HGNC 11459 HGNC
Ensembl ENSG00000088002 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62405993 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
0.006 prostate carcinoma According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... BeFree 24682418 Detail
0.005 prostate carcinoma According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... BeFree 24682418 Detail
0.041 Malignant neoplasm of prostate According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... BeFree 24682418 Detail
0.021 Malignant neoplasm of prostate According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and... BeFree 24682418 Detail
Annotation

Annotations

DescrptionSourceLinks
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... DisGeNET Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... DisGeNET Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... DisGeNET Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12460535 dbSNP
Genome
hg38
Position
chr19:48,595,493-48,595,493
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))
rs12460535
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4339
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7273
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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