chr14:90397013:C>T Detail (hg38) (CALM1, LOC112272566)

Information

Genome

Assembly Position
hg19 chr14:90,863,357-90,863,357 View the variant detail on this assembly version.
hg38 chr14:90,397,013-90,397,013

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, single submitter long QT syndrome 14,catecholaminergic polymorphic ventricular tachycardia 4 germline Detail
Benign 2024-01-22 criteria provided, single submitter long QT syndrome 14,catecholaminergic polymorphic ventricular tachycardia 4 germline Detail
Benign 2018-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Degenerative polyarthritis Our data implied that the -16TT (rs12885713) CALM1 core promoter genotype is not... BeFree 18452398 Detail
<0.001 Adolescent idiopathic scoliosis The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be ... BeFree 22009783 Detail
<0.001 Dissecting aneurysm of the thoracic aorta The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be ... BeFree 22009783 Detail
0.157 Degenerative polyarthritis Our data implied that the -16TT (rs12885713) CALM1 core promoter genotype is not... BeFree 18452398 Detail
<0.001 Dissecting aneurysm of the thoracic aorta The current study indicates that: (i) there are statistical differences between ... BeFree 22009847 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006888.5(CALM1):c.-218C>T AND multiple conditions ClinVar Detail
NM_006888.5(CALM1):c.-218C>T AND multiple conditions ClinVar Detail
NM_006888.5(CALM1):c.-218C>T AND not provided ClinVar Detail
Our data implied that the -16TT (rs12885713) CALM1 core promoter genotype is not a risk factor for O... DisGeNET Detail
The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs1... DisGeNET Detail
The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs1... DisGeNET Detail
Our data implied that the -16TT (rs12885713) CALM1 core promoter genotype is not a risk factor for O... DisGeNET Detail
The current study indicates that: (i) there are statistical differences between patients with double... DisGeNET Detail
Gene
-
dbSNP
rs12885713 dbSNP
Genome
hg38
Position
chr14:90,397,013-90,397,013
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))
rs12885713
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3075
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5149
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
Genome browser