rs2270968

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs2270968(A;C)

Make rs2270968(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

183037421

Gene

MCCC1

is a	snp
is	mentioned by
dbSNP	rs2270968
dbSNP (classic)	rs2270968
ClinGen	rs2270968
ebi	rs2270968
HLI	rs2270968
Exac	rs2270968
Gnomad	rs2270968
Varsome	rs2270968
LitVar	rs2270968
Map	rs2270968
PheGenI	rs2270968
Biobank	rs2270968
1000 genomes	rs2270968
hgdp	rs2270968
ensembl	rs2270968
geneview	rs2270968
scholar	rs2270968
google	rs2270968
pharmgkb	rs2270968
gwascentral	rs2270968
openSNP	rs2270968
23andMe	rs2270968
SNPshot	rs2270968
SNPdbe	rs2270968
MSV3d	rs2270968
GWAS Ctlg	rs2270968

GMAF

0.4775

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

GWAS snp
PMID	[PMID 24816252]
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 3-MCC Deficiency
Variation	info
Gene	MCCC1
CLNDBN	not specified 3-MCC Deficiency
Reversed	1
HGVS	NC_000003.11:g.182755209T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000081992.4, RCV000262405.1,

[PMID 32652860] SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.