chr12:71938143:G>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:72,331,923-72,331,923 View the variant detail on this assembly version.
hg38 chr12:71,938,143-71,938,143

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.507
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 Psychotic Disorders More specifically, we observed that the T allele in the rs4570625 polymorphism w... BeFree 24491795 Detail
<0.001 Alcohol abuse More specifically, we observed that the T allele in the rs4570625 polymorphism w... BeFree 24491795 Detail
0.014 panic disorder In this study involving 64 individuals, we examined the associations between pre... BeFree 23552096 Detail
0.001 PANIC DISORDER 1 In this study involving 64 individuals, we examined the associations between pre... BeFree 23552096 Detail
0.147 Personality Disorders By doing so, we observed nominal evidence for G x E effects as well as main effe... BeFree 19894072 Detail
<0.001 Personality Disorders By doing so, we observed nominal evidence for G x E effects as well as main effe... BeFree 19894072 Detail
0.004 Anxiety Disorders A functional variation in the TPH2 gene (G-703T, rs4570625) has been found to af... BeFree 25455586 Detail
0.002 Depressive Symptoms Data from two samples of 5-7-month-old infants (N = 139) were used to examine wh... BeFree 24304270 Detail
Annotation

Annotations

DescrptionSourceLinks
More specifically, we observed that the T allele in the rs4570625 polymorphism was associated with p... DisGeNET Detail
More specifically, we observed that the T allele in the rs4570625 polymorphism was associated with p... DisGeNET Detail
In this study involving 64 individuals, we examined the associations between prefrontal cortical GAB... DisGeNET Detail
In this study involving 64 individuals, we examined the associations between prefrontal cortical GAB... DisGeNET Detail
By doing so, we observed nominal evidence for G x E effects as well as main effects of 5-HTT-LPR and... DisGeNET Detail
By doing so, we observed nominal evidence for G x E effects as well as main effects of 5-HTT-LPR and... DisGeNET Detail
A functional variation in the TPH2 gene (G-703T, rs4570625) has been found to affect anxiety-related... DisGeNET Detail
Data from two samples of 5-7-month-old infants (N = 139) were used to examine whether established ca... DisGeNET Detail
Gene
-
dbSNP
rs4570625 dbSNP
Genome
hg38
Position
chr12:71,938,143-71,938,143
Variant Type
snv
Reference Allele
G
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))
rs4570625
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5072
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8501
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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