chr2:60937196:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:61,164,331-61,164,331 View the variant detail on this assembly version.
hg38 chr2:60,937,196-60,937,196

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.028
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.253 rheumatoid arthritis REL, encoding a member of the NF-kappaB family of transcription factors, is a ne... GWASCAT 19503088 Detail
0.253 rheumatoid arthritis The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA)... BeFree 22170493 Detail
0.123 Arthritis, Psoriatic Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus... GWASCAT 22170493 Detail
0.123 Arthritis, Psoriatic [Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locu... GAD 22170493 Detail
0.253 rheumatoid arthritis [REL, encoding a member of the NF-kappaB family of transcription factors, is a n... GAD 19503088 Detail
<0.001 Psoriasis vulgaris The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA)... BeFree 22170493 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
Annotation

Annotations

DescrptionSourceLinks
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk loc... DisGeNET Detail
The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA), and another SNP ne... DisGeNET Detail
Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. DisGeNET Detail
[Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.] DisGeNET Detail
[REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk lo... DisGeNET Detail
The rs13017599 polymorphism is known to associate with rheumatoid arthritis (RA), and another SNP ne... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Gene
-
dbSNP
rs13017599 dbSNP
Genome
hg38
Position
chr2:60,937,196-60,937,196
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs13017599
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.028
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
470
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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