chr2:31583901:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:31,808,970-31,808,970 View the variant detail on this assembly version.
hg38 chr2:31,583,901-31,583,901

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.587
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Metastatic Prostate Carcinoma We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs... BeFree 26169017 Detail
<0.001 Metastatic Prostate Carcinoma We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs... BeFree 26169017 Detail
Annotation

Annotations

DescrptionSourceLinks
We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and... DisGeNET Detail
We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and... DisGeNET Detail
Gene
-
dbSNP
rs676033 dbSNP
Genome
hg38
Position
chr2:31,583,901-31,583,901
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs676033
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5874
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9844
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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