rs138436961

Orientation

plus

Stabilized

plus

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

Make rs138436961(A;A)

Make rs138436961(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

71110074

Gene

MCEE

is a	snp
is	mentioned by
dbSNP	rs138436961
dbSNP (classic)	rs138436961
ClinGen	rs138436961
ebi	rs138436961
HLI	rs138436961
Exac	rs138436961
Gnomad	rs138436961
Varsome	rs138436961
LitVar	rs138436961
Map	rs138436961
PheGenI	rs138436961
Biobank	rs138436961
1000 genomes	rs138436961
hgdp	rs138436961
ensembl	rs138436961
geneview	rs138436961
scholar	rs138436961
google	rs138436961
pharmgkb	rs138436961
gwascentral	rs138436961
openSNP	rs138436961
23andMe	rs138436961
SNPshot	rs138436961
SNPdbe	rs138436961
MSV3d	rs138436961
GWAS Ctlg	rs138436961

Max Magnitude

0

minor allele should be reclassified as benign according to [PMID 26990548]

ClinVar
Risk	rs138436961(A;A)
Alt	rs138436961(A;A)
Reference	Rs138436961(G;G)
Significance	Pathogenic
Disease	Methylmalonyl-CoA epimerase deficiency
Variation	info
Gene	MCEE
CLNDBN	Methylmalonyl-CoA epimerase deficiency
Reversed	0
HGVS	NC_000002.11:g.71337204G>A
CLNSRC
CLNACC	RCV000203412.1,