chr1:219448378:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr1:219,448,378-219,448,378
hg38 chr1:219,275,036-219,275,036 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:0.053
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 obesity By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
Annotation

Annotations

DescrptionSourceLinks
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
Gene
-
dbSNP
rs12137855 dbSNP
Genome
hg19
Position
chr1:219,448,378-219,448,378
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))
rs12137855
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0532
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
892
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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