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rs2270968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2270968(A;C)
Make rs2270968(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position183037421
GeneMCCC1
is asnp
is mentioned by
dbSNPrs2270968
ebirs2270968
HLIrs2270968
Exacrs2270968
Varsomers2270968
Maprs2270968
PheGenIrs2270968
hapmaprs2270968
1000 genomesrs2270968
hgdprs2270968
ensemblrs2270968
gopubmedrs2270968
geneviewrs2270968
scholarrs2270968
googlers2270968
pharmgkbrs2270968
gwascentralrs2270968
openSNPrs2270968
23andMers2270968
23andMe allrs2270968
SNP Nexus

SNPshotrs2270968
SNPdbers2270968
MSV3drs2270968
GWAS Ctlgrs2270968
GMAF0.4775
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene MCCC1
allele G
frequency 0.742
sift TOLERATED
HuRef 1103656313763
Disease Association Defects in MCCC1 are the cause of 3- methylcrotonylglycinuria type I (MCGI) (MIM:210200); also designated CGA or CG2. MCGI is a recessive disease that is characterized by muscular hypotonia and atrophy, probably of spinal origin.



GET Evidence
MCCC1-H464P
aa_change His464Pro
aa_change_short H464P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.584031
summary



GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele T
P-val 1E-16
Odds Ratio .03 [0.023-0.039] unit increase


ClinVar
Risk rs2270968(C;C)
Alt rs2270968(C;C)
Reference rs2270968(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MCCC1
CLNDBN not specified
Reversed 1
HGVS NC_000003.11:g.182755209T>G
CLNSRC ClinVar Emory University
CLNACC RCV000081992.4,