chr12:48278010:A>C Detail (hg19) (VDR)

Information

Genome

Assembly Position
hg19 chr12:48,278,010-48,278,010
hg38 chr12:47,884,227-47,884,227 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001017536.1:c.68-1453T>G
NM_000376.2:c.-83-1453T>G
Ensemble ENST00000550325.5:c.68-1453T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601769 OMIM
HGNC 12679 HGNC
Ensembl ENSG00000111424 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.013 colorectal cancer Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and C... BeFree 24075799 Detail
0.012 colorectal carcinoma Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and C... BeFree 24075799 Detail
Annotation

Annotations

DescrptionSourceLinks
Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortalit... DisGeNET Detail
Unadjusted and adjusted hazard ratios for all-cause mortality (469 events) and CRC-specific mortalit... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1989969 dbSNP
Genome
hg19
Position
chr12:48,278,010-48,278,010
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser