chr12:4263966:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:4,373,132-4,373,132 View the variant detail on this assembly version.
hg38 chr12:4,263,966-4,263,966

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.661
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
0.121 colorectal cancer We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly... BeFree 24968322 Detail
<0.001 colorectal carcinoma We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly... BeFree 24968322 Detail
Annotation

Annotations

DescrptionSourceLinks
We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC... DisGeNET Detail
We found that rs10795668 in FLJ3802842 and rs4631962 in CCND2 were significantly associated with CRC... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4631962 dbSNP
Genome
hg38
Position
chr12:4,263,966-4,263,966
Variant Type
snv
Reference Allele
A
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))
rs4631962
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6608
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11075
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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