chr2:204741166:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr2:204,741,166-204,741,166
hg38 chr2:203,876,443-203,876,443 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:0.412
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
0.248 Diabetes Mellitus, Insulin-Dependent Evidence for association with T1D was observed for the IFIH1 SNP, rs1990760 (P=7... BeFree 19956106 Detail
0.167 Diabetes Mellitus, Insulin-Dependent Evidence for association with T1D was observed for the IFIH1 SNP, rs1990760 (P=7... BeFree 19956106 Detail
Annotation

Annotations

DescrptionSourceLinks
Evidence for association with T1D was observed for the IFIH1 SNP, rs1990760 (P=7.0 x 10(-4)), with R... DisGeNET Detail
Evidence for association with T1D was observed for the IFIH1 SNP, rs1990760 (P=7.0 x 10(-4)), with R... DisGeNET Detail
Gene
-
dbSNP
rs1427676 dbSNP
Genome
hg19
Position
chr2:204,741,166-204,741,166
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1427676
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4124
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6911
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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