chr1:169673838:G>A Detail (hg19) (SELL)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:169,673,838-169,673,838 |
hg38 | chr1:169,704,697-169,704,697 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000655.4:c.637C>T | NP_000646.2:p.Pro213Ser |
NR_029467.1:c.637C>T | ||
Ensemble | ENST00000236147.6:c.637C>T | ENST00000236147.6:p.Pro213Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.253 |
ToMMo:0.240 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.261 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | Kidney Failure, Chronic | Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and re... | BeFree | 22119815 | Detail |
0.002 | borderline personality disorder | Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... | BeFree | 17726703 | Detail |
<0.001 | bronchopulmonary dysplasia | Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... | BeFree | 17726703 | Detail |
0.001 | bronchopulmonary dysplasia | Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... | BeFree | 17726703 | Detail |
<0.001 | borderline personality disorder | Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... | BeFree | 17726703 | Detail |
0.009 | bronchopulmonary dysplasia | Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... | BeFree | 17726703 | Detail |
0.006 | Diabetes Mellitus, Non-Insulin-Dependent | Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and re... | BeFree | 22119815 | Detail |
0.006 | Diabetes Mellitus, Non-Insulin-Dependent | Association of P213S polymorphism of the L-selectin gene with type 2 diabetes an... | BeFree | 22921892 | Detail |
0.001 | Chronic graft-versus-host disease | We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs11... | BeFree | 22646485 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and related end stage rena... | DisGeNET | Detail |
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... | DisGeNET | Detail |
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... | DisGeNET | Detail |
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... | DisGeNET | Detail |
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... | DisGeNET | Detail |
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... | DisGeNET | Detail |
Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and related end stage rena... | DisGeNET | Detail |
Association of P213S polymorphism of the L-selectin gene with type 2 diabetes and insulin resistance... | DisGeNET | Detail |
We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs1131012) and SELL (rs2... | 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
- hg19
- Position
- chr1:169,673,838-169,673,838
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 989
- Mean of sample read depth (HGVD)
- 24.11
- Standard deviation of sample read depth (HGVD)
- 12.74
- Number of reference allele (HGVD)
- 1478
- Number of alternative allele (HGVD)
- 500
- Allele Frequency (HGVD)
- 0.2527805864509606
- Gene Symbol (HGVD)
- SELL
- 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))
- rs2229569
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2399
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4020
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 674
- East Asian Allele Counts (ExAC)
- 176
- East Asian Heterozygous Counts (ExAC)
- 128
- East Asian Homozygous Counts (ExAC)
- 24
- East Asian Allele Frequency (ExAC)
- 0.26112759643916916
- Chromosome Counts in All Race (ExAC)
- 23132
- Allele Counts in All Race (ExAC)
- 4861
- Heterozygous Counts in All Race (ExAC)
- 3761
- Homozygous Counts in All Race (ExAC)
- 550
- Allele Frequency in All Race (ExAC)
- 0.2101417949161335
Genome browser