chr1:202952912:C>T Detail (hg38) (ADIPOR1)

Information

Genome

Assembly Position
hg19 chr1:202,922,040-202,922,040 View the variant detail on this assembly version.
hg38 chr1:202,952,912-202,952,912

HGVS

Type Transcript Protein
RefSeq NM_001290553.1:c.-94-1748G>A
NM_001290557.1:c.-94-1748G>A
NM_015999.5:c.-94-1748G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.095
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 607945 OMIM
HGNC 24040 HGNC
Ensembl ENSG00000159346 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4463834 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
0.002 colorectal carcinoma We conclude that the rs12733285C/T genotype and the carriage of the A allele of ... BeFree 21749709 Detail
<0.001 Malignant tumor of colon We conclude that the rs12733285C/T genotype and the carriage of the A allele of ... BeFree 21749709 Detail
<0.001 colon carcinoma We conclude that the rs12733285C/T genotype and the carriage of the A allele of ... BeFree 21749709 Detail
0.005 colorectal cancer We conclude that the rs12733285C/T genotype and the carriage of the A allele of ... BeFree 21749709 Detail
Annotation

Annotations

DescrptionSourceLinks
We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/... DisGeNET Detail
We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/... DisGeNET Detail
We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/... DisGeNET Detail
We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12733285 dbSNP
Genome
hg38
Position
chr1:202,952,912-202,952,912
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs12733285
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0946
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1586
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser