chr1:169594713:T>G Detail (hg38) (SELP)

Information

Genome

Assembly Position
hg19 chr1:169,563,951-169,563,951 View the variant detail on this assembly version.
hg38 chr1:169,594,713-169,594,713

HGVS

Type Transcript Protein
RefSeq NM_003005.3:c.2266A>C NP_002996.2:p.Thr756Pro
Ensemble ENST00000263686.11:c.2266A>C ENST00000263686.11:p.Thr756Pro
ENST00000367786.6:c.2080A>C ENST00000367786.6:p.Thr694Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 173610 OMIM
HGNC 10721 HGNC
Ensembl ENSG00000174175 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3711974 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1998-08-01 no assertion criteria provided SELECTIN P POLYMORPHISM germline Detail
Benign 2019-11-15 criteria provided, single submitter SELP-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 rheumatoid arthritis SELP (selectin P, CD62P) SNP-allele rs6136-T was associated with risk for RA in ... BeFree 25147926 Detail
<0.001 pancreatic ductal adenocarcinoma Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... BeFree 25238546 Detail
0.137 Cachexia Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... BeFree 25238546 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003005.4(SELP):c.2266A>C (p.Thr756Pro) AND SELECTIN P POLYMORPHISM ClinVar Detail
NM_003005.4(SELP):c.2266A>C (p.Thr756Pro) AND SELP-related disorder ClinVar Detail
SELP (selectin P, CD62P) SNP-allele rs6136-T was associated with risk for RA in two RA family sample... DisGeNET Detail
Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... DisGeNET Detail
Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... 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
-
dbSNP
rs6136 dbSNP
Genome
hg38
Position
chr1:169,594,713-169,594,713
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1184
Mean of sample read depth (HGVD)
36.08
Standard deviation of sample read depth (HGVD)
16.47
Number of reference allele (HGVD)
2367
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.222972972972973E-4
Gene Symbol (HGVD)
SELP
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4714186530895625E-4
Chromosome Counts in All Race (ExAC)
121062
Allele Counts in All Race (ExAC)
9937
Heterozygous Counts in All Race (ExAC)
8849
Homozygous Counts in All Race (ExAC)
544
Allele Frequency in All Race (ExAC)
0.08208190844360741
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