chr17:5554987:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:5,554,987-5,554,987
hg38 chr17:5,651,667-5,651,667 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.185
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
0.257 systemic scleroderma Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... BeFree 21149496 Detail
0.143 systemic scleroderma Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... BeFree 21149496 Detail
Annotation

Annotations

DescrptionSourceLinks
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... DisGeNET Detail
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... DisGeNET Detail
Gene
-
dbSNP
rs8182352 dbSNP
Genome
hg19
Position
chr17:5,554,987-5,554,987
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs8182352
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1848
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3097
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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