chr1:169731919:T>G Detail (hg38) (SELE)

Information

Genome

Assembly Position
hg19 chr1:169,701,060-169,701,060 View the variant detail on this assembly version.
hg38 chr1:169,731,919-169,731,919

HGVS

Type Transcript Protein
RefSeq NM_000450.2:c.445A>C NP_000441.2:p.Ser149Arg
Ensemble ENST00000333360.12:c.445A>C ENST00000333360.12:p.Ser149Arg
ENST00000367774.1:c.445A>C ENST00000367774.1:p.Ser149Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.032
ToMMo:0.037
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.014

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131210 OMIM
HGNC 10718 HGNC
Ensembl ENSG00000007908 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3716222 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
0.059 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.002 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.010 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.150 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.024 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
<0.001 stomach carcinoma E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased r... BeFree 21780194 Detail
<0.001 stomach carcinoma Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations... BeFree 21780194 Detail
0.003 Malignant neoplasm of stomach Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations... BeFree 21780194 Detail
0.003 Malignant neoplasm of stomach E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased r... BeFree 21780194 Detail
0.002 stomach carcinoma E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased r... BeFree 21780194 Detail
0.002 Malignant neoplasm of stomach E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased r... BeFree 21780194 Detail
0.133 Cardiovascular Diseases The rs5361 (561A&gt;C) polymorphism in the E-selectin gene has been linked to ch... BeFree 25147432 Detail
0.003 Acute coronary syndrome Assessment of the E-selectin rs5361 (561A&gt;C) polymorphism and soluble protein... BeFree 25147432 Detail
0.016 age related macular degeneration This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345... BeFree 17057786 Detail
Annotation

Annotations

DescrptionSourceLinks
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased risk of gastric cance... DisGeNET Detail
Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations to E-selectin varia... DisGeNET Detail
Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations to E-selectin varia... DisGeNET Detail
E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased risk of gastric cance... DisGeNET Detail
E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased risk of gastric cance... DisGeNET Detail
E-selectin rs5361 and FCGR2A rs1801274 variants were associated with increased risk of gastric cance... DisGeNET Detail
The rs5361 (561A&gt;C) polymorphism in the E-selectin gene has been linked to changes in gene expres... DisGeNET Detail
Assessment of the E-selectin rs5361 (561A&gt;C) polymorphism and soluble protein concentration in ac... DisGeNET Detail
This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr1:169,731,919-169,731,919
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
55.62
Standard deviation of sample read depth (HGVD)
24.10
Number of reference allele (HGVD)
2333
Number of alternative allele (HGVD)
77
Allele Frequency (HGVD)
0.031950207468879666
Gene Symbol (HGVD)
SELE
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))
rs5361
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0369
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
618
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8506
East Asian Allele Counts (ExAC)
120
East Asian Heterozygous Counts (ExAC)
116
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.014107688690336233
Chromosome Counts in All Race (ExAC)
120200
Allele Counts in All Race (ExAC)
10194
Heterozygous Counts in All Race (ExAC)
9205
Homozygous Counts in All Race (ExAC)
494
Allele Frequency in All Race (ExAC)
0.08480865224625624
Genome browser