chr14:52933911:T>C Detail (hg38) (FERMT2)

Information

Genome

Assembly Position
hg19 chr14:53,400,629-53,400,629 View the variant detail on this assembly version.
hg38 chr14:52,933,911-52,933,911

HGVS

Type Transcript Protein
RefSeq NM_006832.2:c.158-14555A>G
NM_001134999.1:c.158-14555A>G
NM_001135000.1:c.158-14555A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.239
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
Type Database ID Link
Gene MIM 607746 OMIM
HGNC 15767 HGNC
Ensembl ENSG00000073712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50808483 TogoVar
COSMIC
MONDO
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 (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
0.120 Alzheimer's disease Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Al... GWASCAT 24162737 Detail
<0.001 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
<0.001 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
0.196 obesity (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125... BeFree 24788522 Detail
Annotation

Annotations

DescrptionSourceLinks
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17125944 dbSNP
Genome
hg38
Position
chr14:52,933,911-52,933,911
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))
rs17125944
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2388
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4002
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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