{{Rsnum
|rsid=3197999
|Gene=MST1
|Chromosome=3
|position=49684099
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2153
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MST1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 52.7 | 42.9 | 4.5
| HCB | 91.2 | 8.8 | 0.0
| JPT | 85.7 | 14.3 | 0.0
| YRI | 63.7 | 28.1 | 8.2
| ASW | 47.4 | 50.9 | 1.8
| CHB | 91.2 | 8.8 | 0.0
| CHD | 88.0 | 10.2 | 1.9
| GIH | 62.4 | 33.7 | 4.0
| LWK | 53.6 | 37.3 | 9.1
| MEX | 55.2 | 43.1 | 1.7
| MKK | 55.8 | 35.9 | 8.3
| TSI | 41.2 | 51.0 | 7.8
| HapMapRevision=28
}}[http://blog.23andme.com/2008/06/30/snpwatch-number-of-snps-associated-with-crohn%E2%80%99s-disease-triples/ via spitoon] reports about {{doi|10.1038/ng.175}} which identifies 32 snps relevant to [[Crohn's disease]]: '''Out of a possible total of 46, 80% of people will have between 17 and 25 copies of the riskier versions of these SNPs. Because there are so many of these SNPs--and because the riskier versions are often more common than their less risky counterparts--even people at the high end of the distribution are not much more likely than average to develop Crohn's disease.'''

*[[rs3197999]] 	A 	1.2
*[[rs2188962]] 	T 	1.25
*[[rs2476601]] 	G 	1.31
*[[rs2274910]] 	C 	1.14
*[[rs9286879]] 	G 	1.19
*[[rs10045431]] 	C 	1.11
*[[rs6908425]] 	C 	1.21
*[[rs2301436]] 	T 	1.21
*[[rs1456893]] 	A 	1.2
*[[rs1551398]] 	A 	1.08
*[[rs10758669]] 	C 	1.12
*[[rs3764147]] 	G 	1.25
*[[rs2872507]] 	A 	1.12
*[[rs744166]] 	A 	1.18
*[[rs762421]] 	G 	1.13
*[[rs3763313]] 	C 	1.19

Proxy snps on [[23andMe]]
*[[rs7714584]] 	G 	1.33
*[[rs6478108]] 	T 	1.22
*[[rs12122721]] 	G 	1.18
*[[rs7923172]] 	A 	1.16
*[[rs11564187]] 	G 	1.54
*[[rs1736148]] 	T 	1.18
*[[rs2024092]] 	A 	1.02

{{PMID Auto GWAS
|PMID=18587394
|Trait=Crohn's disease
|Title=Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
|RiskAllele=A
|Pval=9.9999999999999998E-13
|OR=1.20
|ORtxt=[NR]
|OA=1
}}

{{omim
|desc=INFLAMMATORY BOWEL DISEASE 12; IBD12
|id=612241
|rsnum=3197999
}}

{{PMID Auto
|PMID=20024904
|Title=Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease
}}

{{PMID Auto
|PMID=19944697
|Title=Genome-wide association analysis in [[primary sclerosing cholangitis]]
}}
{{PMID Auto GWAS
|PMID=20228799
|Trait=Ulcerative colitis
|Title=Genome-wide association identifies multiple ulcerative colitis susceptibility loci
|RiskAllele=T
|Pval=4E-9
|OR=1.20
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21151127
|Trait=None
|Title=Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
|RiskAllele=
|Pval=1E-16
|OR=1.3900
|ORtxt=[1.24-1.56]
}}
{{PMID Auto GWAS
|PMID=21102463
|Trait=None
|Title=Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
|RiskAllele=A
|Pval=6E-17
|OR=1.2200
|ORtxt=[1.16-1.27]
|OA=1
}}

{{PMID Auto
|PMID=18438406
|Title=Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
|OA=1
}}

{{PMID Auto
|PMID=19079170
|Title=Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=20018022
|Title=Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=21304977
|Title=An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
|OA=1
}}

{{PMID Auto
|PMID=22237417
|Title=Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease.
}}

{{PMID Auto
|PMID=22554193
|Title=Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis.
}}

{{GET Evidence
|gene=MST1
|aa_change=Arg689Cys
|aa_change_short=R689C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3197999
|overall_frequency_n=11
|overall_frequency_d=90
|overall_frequency=0.122222
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.554
|nblosum100=8
|autoscore=0
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23128233
  |Trait=Inflammatory bowel disease
  |Title=Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
  |RiskAllele=A
  |Pval=1E-47
  |OR=1.18
  |ORtxt=[1.144-1.216]
  |OA=1
}}

{{PMID Auto
|PMID=23422030
|Title=Macrophage stimulating protein variation enhances the risk of sporadic extrahepatic cholangiocarcinoma.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}