chr4:56215631:C>G Detail (hg19) (SRD5A3)

Information

Genome

Assembly Position
hg19 chr4:56,215,631-56,215,631
hg38 chr4:55,349,464-55,349,464 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024592.4:c.221+2907C>G
Ensemble ENST00000264228.9:c.221+2907C>G
ENST00000679836.1:c.221+2907C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.664
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 611715 OMIM
HGNC 25812 HGNC
Ensembl ENSG00000128039 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17053245 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 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.006 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
Annotation

Annotations

DescrptionSourceLinks
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11133373 dbSNP
Genome
hg19
Position
chr4:56,215,631-56,215,631
Variant Type
snv
Reference Allele
C
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))
rs11133373
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6644
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11135
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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