chr17:63498748:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr17:61,576,109-61,576,109 View the variant detail on this assembly version.
hg38 chr17:63,498,748-63,498,748

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.576
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
<0.001 Kidney Diseases In addition, homozygosity for the common haplotype TIC (which corresponded to th... BeFree 15793268 Detail
<0.001 Microalbuminuria In addition, homozygosity for the common haplotype TIC (which corresponded to th... BeFree 15793268 Detail
Annotation

Annotations

DescrptionSourceLinks
In addition, homozygosity for the common haplotype TIC (which corresponded to the T, insertion, and ... DisGeNET Detail
In addition, homozygosity for the common haplotype TIC (which corresponded to the T, insertion, and ... DisGeNET Detail
Gene
-
dbSNP
rs9896208 dbSNP
Genome
hg38
Position
chr17:63,498,748-63,498,748
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))
rs9896208
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5764
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9661
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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