chr1:46870761:C>A Detail (hg19) (FAAH)

Information

Genome

Assembly Position
hg19 chr1:46,870,761-46,870,761
hg38 chr1:46,405,089-46,405,089 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001441.2:c.385C>A NP_001432.2:p.Pro129Thr
Ensemble ENST00000243167.9:c.385C>A ENST00000243167.9:p.Pro129Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.156
ToMMo:0.163
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.175

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
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 tgv1383219 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-04-01 no assertion criteria provided FAAH POLYMORPHISM germline Detail
Likely benign 2021-10-08 criteria provided, single submitter Polysubstance abuse, susceptibility to unknown Detail
Benign 2019-10-18 criteria provided, single submitter FAAH-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Substance abuse problem Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs3... BeFree 18705688 Detail
0.003 Substance abuse problem Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs3... BeFree 18705688 Detail
<0.001 Fatigue Fatigue levels were also found to be associated with the haplotypes CCC and TAT ... BeFree 19890266 Detail
<0.001 Pediatric Obesity The trio analysis revealed some evidence for an association of three SNPs in FAA... BeFree 20044928 Detail
0.003 Crohn Disease To analyse FAAH expression and the FAAH 385 C/A (p.Pro129Thr; rs324420) single n... BeFree 19053981 Detail
0.002 Drug usage The human fatty acid amide hydrolase (FAAH) missense mutation c.385 C--&gt;A, wh... BeFree 16972078 Detail
0.002 Drug usage In this study we investigated inter-individual differences in mood response to a... BeFree 19890266 Detail
0.004 Drug abuse Although a link between the FAAH P129T variant and human drug abuse has been rep... BeFree 16972078 Detail
0.002 Drug usage The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users:... BeFree 17290447 Detail
0.143 obesity It has been demonstrated that the polymorphism 385 C/A of FAAH (fatty acid amide... BeFree 22609216 Detail
0.143 obesity An association between Pro129Thr variant of the FAAH gene and obesity has been d... BeFree 18819056 Detail
0.002 Overweight and obesity C385A is a common, functionally active genetic polymorphism of the gene encoding... BeFree 23616186 Detail
0.143 obesity The C385A polymorphism of FAAH gene (rs324420C&gt;A) has been associated with ob... BeFree 24445122 Detail
0.001 Overweight In conclusion, in a large study sample, we were unable to find robust evidence o... BeFree 17216208 Detail
0.007 Marijuana Abuse The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users:... BeFree 17290447 Detail
0.005 Gastrointestinal Diseases [ The association of genetic variation in metabolism of endocannabinoids] GAD 17962356 Detail
0.007 Marijuana Abuse The SNP, FAAH C385A (rs324420), was examined to determine whether its variance w... BeFree 19002671 Detail
<0.001 Constipation Dronabinol affected fasting distal MI in patients, regardless of FAAH rs324420 v... BeFree 21803011 Detail
0.143 obesity Our results in 5,109 subjects suggest that FAAH Pro129Thr polymorphism may modes... BeFree 20054193 Detail
0.143 obesity A common single nucleotide polymorphism (C385A) in the human FAAH gene has been ... BeFree 19103437 Detail
0.001 substance dependence The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an... BeFree 16972078 Detail
<0.001 Alcohol problem As conclusion, because drug addiction is a multi-step process and a preventable ... BeFree 24407958 Detail
<0.001 pathologic fistula However, CD patients homozygous for the FAAH p.Pro129Thr polymorphism were more ... BeFree 19053981 Detail
0.001 substance dependence As conclusion, because drug addiction is a multi-step process and a preventable ... BeFree 24407958 Detail
0.001 drug dependence As conclusion, because drug addiction is a multi-step process and a preventable ... BeFree 24407958 Detail
0.002 Drug usage Reduced cellular expression and activity of the P129T mutant of human fatty acid... BeFree 15254019 Detail
<0.001 Methamphetamine dependence Our findings suggest that the FAAH Pro129Thr polymorphism may contribute to meth... BeFree 23556448 Detail
0.001 drug dependence The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an... BeFree 16972078 Detail
0.003 Crohn Disease Genomic DNA from 202 patients with Crohn's disease (CD) and 206 healthy controls... BeFree 18493729 Detail
0.003 Substance abuse problem Owing to the importance of endocannabinoid system in addiction, the Pro129Thr po... BeFree 17621164 Detail
0.002 Overweight and obesity Recently, it has been shown that the polymorphism 385 C/A of FAAH (fatty acid am... BeFree 20065978 Detail
0.143 obesity It has been demonstrated that the polymorphism 385 C/A of fatty acid amide hydro... BeFree 20102775 Detail
0.001 Overweight The association of a missense polymorphism (Pro129Thr) in FAAH gene with overwei... BeFree 20054193 Detail
0.002 Overweight and obesity The Pro129THr, C385A, polymorphism of FAAH gene (rs324420C&gt;A) has been associ... BeFree 20716455 Detail
0.120 Polysubstance abuse, susceptibility to NA CLINVAR Detail
<0.001 Anxiety Disorders The common functional single-nucleotide polymorphism (rs324420, C385A) of the en... BeFree 26036940 Detail
0.143 obesity This study investigates the relationship among FAAH P129T alleles and cardiovasc... BeFree 18497731 Detail
0.002 Overweight and obesity The polymorphism 385 C/A of FAAH has been associated with overweight and obesity... BeFree 20056290 Detail
0.002 Overweight and obesity The homozygous Thr/Thr genotype of the functional Pro129Thr variant (rs324420) i... BeFree 17216208 Detail
<0.001 PANIC DISORDER 1 This study investigated the association of the Pro129Thr polymorphism of the FAA... BeFree 23556448 Detail
<0.001 panic disorder This study investigated the association of the Pro129Thr polymorphism of the FAA... BeFree 23556448 Detail
0.162 polycystic ovary syndrome In the control group, carriers of the polymorphism had significantly lower insul... BeFree 23616186 Detail
0.007 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.014 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.002 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.006 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.003 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001441.3(FAAH):c.385C>A (p.Pro129Thr) AND FAAH POLYMORPHISM ClinVar Detail
NM_001441.3(FAAH):c.385C>A (p.Pro129Thr) AND Polysubstance abuse, susceptibility to ClinVar Detail
NM_001441.3(FAAH):c.385C>A (p.Pro129Thr) AND FAAH-related disorder ClinVar Detail
Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associ... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associ... DisGeNET Detail
Fatigue levels were also found to be associated with the haplotypes CCC and TAT formed from rs376624... DisGeNET Detail
The trio analysis revealed some evidence for an association of three SNPs in FAAH (rs324420 rs324419... DisGeNET Detail
To analyse FAAH expression and the FAAH 385 C/A (p.Pro129Thr; rs324420) single nucleotide polymorphi... DisGeNET Detail
The human fatty acid amide hydrolase (FAAH) missense mutation c.385 C--&gt;A, which results in conve... DisGeNET Detail
In this study we investigated inter-individual differences in mood response to amphetamine in relati... DisGeNET Detail
Although a link between the FAAH P129T variant and human drug abuse has been reported, the extent of... DisGeNET Detail
The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users: studies of drug use... DisGeNET Detail
It has been demonstrated that the polymorphism 385 C/A of FAAH (fatty acid amide hydrolase) was asso... DisGeNET Detail
An association between Pro129Thr variant of the FAAH gene and obesity has been described, but variou... DisGeNET Detail
C385A is a common, functionally active genetic polymorphism of the gene encoding fatty acid amide hy... DisGeNET Detail
The C385A polymorphism of FAAH gene (rs324420C&gt;A) has been associated with obesity. DisGeNET Detail
In conclusion, in a large study sample, we were unable to find robust evidence of an association of ... DisGeNET Detail
The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users: studies of drug use... DisGeNET Detail
[ The association of genetic variation in metabolism of endocannabinoids] DisGeNET Detail
The SNP, FAAH C385A (rs324420), was examined to determine whether its variance was associated with c... DisGeNET Detail
Dronabinol affected fasting distal MI in patients, regardless of FAAH rs324420 variant (CA/AA vs CC)... DisGeNET Detail
Our results in 5,109 subjects suggest that FAAH Pro129Thr polymorphism may modestly contribute to cl... DisGeNET Detail
A common single nucleotide polymorphism (C385A) in the human FAAH gene has been associated with incr... DisGeNET Detail
The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mu... DisGeNET Detail
As conclusion, because drug addiction is a multi-step process and a preventable disease, our results... DisGeNET Detail
However, CD patients homozygous for the FAAH p.Pro129Thr polymorphism were more likely to develop a ... DisGeNET Detail
As conclusion, because drug addiction is a multi-step process and a preventable disease, our results... DisGeNET Detail
As conclusion, because drug addiction is a multi-step process and a preventable disease, our results... DisGeNET Detail
Reduced cellular expression and activity of the P129T mutant of human fatty acid amide hydrolase: ev... DisGeNET Detail
Our findings suggest that the FAAH Pro129Thr polymorphism may contribute to methamphetamine dependen... DisGeNET Detail
The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mu... DisGeNET Detail
Genomic DNA from 202 patients with Crohn's disease (CD) and 206 healthy controls was analyzed for th... DisGeNET Detail
Owing to the importance of endocannabinoid system in addiction, the Pro129Thr polymorphism in the FA... DisGeNET Detail
Recently, it has been shown that the polymorphism 385 C/A of FAAH (fatty acid amide hydrolase) was a... DisGeNET Detail
It has been demonstrated that the polymorphism 385 C/A of fatty acid amide hydrolase was associated ... DisGeNET Detail
The association of a missense polymorphism (Pro129Thr) in FAAH gene with overweight/obesity has been... DisGeNET Detail
The Pro129THr, C385A, polymorphism of FAAH gene (rs324420C&gt;A) has been associated with overweight... DisGeNET Detail
NA DisGeNET Detail
The common functional single-nucleotide polymorphism (rs324420, C385A) of the endocannabinoid inacti... DisGeNET Detail
This study investigates the relationship among FAAH P129T alleles and cardiovascular features in YMs... DisGeNET Detail
The polymorphism 385 C/A of FAAH has been associated with overweight and obesity. DisGeNET Detail
The homozygous Thr/Thr genotype of the functional Pro129Thr variant (rs324420) in the gene encoding ... DisGeNET Detail
This study investigated the association of the Pro129Thr polymorphism of the FAAH gene with methamph... DisGeNET Detail
This study investigated the association of the Pro129Thr polymorphism of the FAAH gene with methamph... DisGeNET Detail
In the control group, carriers of the polymorphism had significantly lower insulin levels.Our data i... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs324420 dbSNP
Genome
hg19
Position
chr1:46,870,761-46,870,761
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1159
Mean of sample read depth (HGVD)
45.97
Standard deviation of sample read depth (HGVD)
22.97
Number of reference allele (HGVD)
1956
Number of alternative allele (HGVD)
362
Allele Frequency (HGVD)
0.15616911130284727
Gene Symbol (HGVD)
FAAH
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))
rs324420
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1631
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2733
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
1513
East Asian Heterozygous Counts (ExAC)
1243
East Asian Homozygous Counts (ExAC)
135
East Asian Allele Frequency (ExAC)
0.17544063079777367
Chromosome Counts in All Race (ExAC)
121168
Allele Counts in All Race (ExAC)
28270
Heterozygous Counts in All Race (ExAC)
21060
Homozygous Counts in All Race (ExAC)
3605
Allele Frequency in All Race (ExAC)
0.23331242572296315
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