chr22:36937894:C>T Detail (hg38) (CSF2RB)

Information

Genome

Assembly Position
hg19 chr22:37,333,936-37,333,936 View the variant detail on this assembly version.
hg38 chr22:36,937,894-36,937,894

HGVS

Type Transcript Protein
RefSeq NM_000395.2:c.2086C>T NP_000386.1:p.Pro696Ser
Ensemble ENST00000403662.8:c.2086C>T ENST00000403662.8:p.Pro696Ser
ENST00000406230.5:c.2104C>T ENST00000406230.5:p.Pro702Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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 138981 OMIM
HGNC 2436 HGNC
Ensembl ENSG00000100368 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv411999147 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-11-24 criteria provided, single submitter not specified germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
<0.001 cervical cancer squamous cell CSF2RB rs16997517 was directly related to pollen allergies in controls and to re... BeFree 21071541 Detail
0.008 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
<0.001 Hay fever CSF2RB rs16997517 was directly related to pollen allergies in controls and to re... BeFree 21071541 Detail
0.003 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
<0.001 cervical cancer squamous cell Two variants were inversely associated with SCC risk: IL4R rs3024656 (per-allele... BeFree 21071541 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser) AND not specified ClinVar Detail
NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser) AND not provided ClinVar Detail
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail
CSF2RB rs16997517 was directly related to pollen allergies in controls and to reduced SCC risk. DisGeNET Detail
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail
CSF2RB rs16997517 was directly related to pollen allergies in controls and to reduced SCC risk. DisGeNET Detail
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail
Two variants were inversely associated with SCC risk: IL4R rs3024656 (per-allele OR: 0.8; 95% CI: 0.... 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
rs16997517 dbSNP
Genome
hg38
Position
chr22:36,937,894-36,937,894
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8574
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.498950314905528E-4
Chromosome Counts in All Race (ExAC)
120358
Allele Counts in All Race (ExAC)
3534
Heterozygous Counts in All Race (ExAC)
3286
Homozygous Counts in All Race (ExAC)
124
Allele Frequency in All Race (ExAC)
0.02936240216686884
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