chr1:46873903:C>T Detail (hg19) (FAAH)

Information

Genome

Assembly Position
hg19 chr1:46,873,903-46,873,903
hg38 chr1:46,408,231-46,408,231 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001441.2:c.952-228C>T
Ensemble ENST00000243167.9:c.952-228C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.337
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 602935 OMIM
HGNC 3553 HGNC
Ensembl ENSG00000117480 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1383509 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 Pediatric Obesity The trio analysis revealed some evidence for an association of three SNPs in FAA... BeFree 20044928 Detail
Annotation

Annotations

DescrptionSourceLinks
The trio analysis revealed some evidence for an association of three SNPs in FAAH (rs324420 rs324419... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs873978 dbSNP
Genome
hg19
Position
chr1:46,873,903-46,873,903
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))
rs873978
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3369
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5646
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser