chr20:52772741:T>C Detail (hg19) (CYP24A1)

Information

Genome

Assembly Position
hg19 chr20:52,772,741-52,772,741
hg38 chr20:54,156,202-54,156,202 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000782.4:c.*10+967A>G
NM_001128915.1:c.*10+967A>G
Ensemble ENST00000216862.8:c.*10+967A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.695
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 126065 OMIM
HGNC 2602 HGNC
Ensembl ENSG00000019186 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64082262 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 melanoma In our hospital-based case-control study including 305 melanoma patients and 370... BeFree 22576141 Detail
<0.001 melanoma In our hospital-based case-control study including 305 melanoma patients and 370... BeFree 22576141 Detail
0.004 melanoma In our hospital-based case-control study including 305 melanoma patients and 370... BeFree 22576141 Detail
<0.001 Papillary thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 Papillary thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 differentiated thyroid gland carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
0.001 differentiated thyroid gland carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 Follicular thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
0.020 Papillary thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 Papillary thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
0.004 Follicular thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 Follicular thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 Follicular thyroid carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
<0.001 differentiated thyroid gland carcinoma German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicul... BeFree 22690899 Detail
Annotation

Annotations

DescrptionSourceLinks
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... DisGeNET Detail
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... DisGeNET Detail
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail
German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs927650 dbSNP
Genome
hg19
Position
chr20:52,772,741-52,772,741
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))
rs927650
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6947
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11644
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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