chr1:169704697:G>A Detail (hg38) (SELL)

Information

Genome

Assembly Position
hg19 chr1:169,673,838-169,673,838 View the variant detail on this assembly version.
hg38 chr1:169,704,697-169,704,697

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
Links
Type Database ID Link
Gene MIM 153240 OMIM
HGNC 10720 HGNC
Ensembl ENSG00000188404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3715056 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
0.003 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

DescrptionSourceLinks
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
hg38
Position
chr1:169,704,697-169,704,697
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
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