chr18:48927559:C>T Detail (hg38) (SMAD7)

Information

Genome

Assembly Position
hg19 chr18:46,453,929-46,453,929 View the variant detail on this assembly version.
hg38 chr18:48,927,559-48,927,559

HGVS

Type Transcript Protein
RefSeq NM_001190821.1:c.743-5649G>A
NM_005904.3:c.743-5649G>A
NM_001190822.1:c.98-5649G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.196
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 602932 OMIM
HGNC 6773 HGNC
Ensembl ENSG00000101665 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv59956865 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
0.162 colorectal cancer Two previous genome-wide association studies identified three single nucleotide ... BeFree 21221812 Detail
0.162 colorectal cancer SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer... BeFree 23949881 Detail
0.009 colorectal carcinoma Two previous genome-wide association studies identified three single nucleotide ... BeFree 21221812 Detail
0.162 colorectal cancer Recently we have demonstrated variation in SMAD7, defined by the single nucleoti... BeFree 18231913 Detail
0.162 colorectal cancer Two recent genome-wide association studies (GWAS) identified three common varian... BeFree 19357349 Detail
0.009 colorectal carcinoma SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer... BeFree 23949881 Detail
0.009 colorectal carcinoma Recently we have demonstrated variation in SMAD7, defined by the single nucleoti... BeFree 18231913 Detail
0.009 colorectal carcinoma Two recent genome-wide association studies (GWAS) identified three common varian... BeFree 19357349 Detail
0.003 renal cell carcinoma including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... BeFree 19562778 Detail
0.003 renal cell carcinoma including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... BeFree 19562778 Detail
Annotation

Annotations

DescrptionSourceLinks
Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs)... DisGeNET Detail
SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer. DisGeNET Detail
Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs)... DisGeNET Detail
Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12... DisGeNET Detail
Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs44641... DisGeNET Detail
SMAD7 rs12953717 polymorphism contributes to increased risk of colorectal cancer. DisGeNET Detail
Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12... DisGeNET Detail
Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs44641... DisGeNET Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... DisGeNET Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12953717 dbSNP
Genome
hg38
Position
chr18:48,927,559-48,927,559
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))
rs12953717
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1962
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3288
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser