rs139852818

Orientation

plus

Stabilized

plus

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

Make rs139852818(C;C)

Make rs139852818(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

71649202

Gene

MCCC2

is a	snp
is	mentioned by
dbSNP	rs139852818
dbSNP (classic)	rs139852818
ClinGen	rs139852818
ebi	rs139852818
HLI	rs139852818
Exac	rs139852818
Gnomad	rs139852818
Varsome	rs139852818
LitVar	rs139852818
Map	rs139852818
PheGenI	rs139852818
Biobank	rs139852818
1000 genomes	rs139852818
hgdp	rs139852818
ensembl	rs139852818
geneview	rs139852818
scholar	rs139852818
google	rs139852818
pharmgkb	rs139852818
gwascentral	rs139852818
openSNP	rs139852818
23andMe	rs139852818
SNPshot	rs139852818
SNPdbe	rs139852818
MSV3d	rs139852818
GWAS Ctlg	rs139852818

Max Magnitude

0

ClinVar
Risk	rs139852818(A;A) rs139852818(C;C)
Alt	rs139852818(A;A) rs139852818(C;C)
Reference	Rs139852818(T;T)
Significance	Probable-Pathogenic
Disease	not specified 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation	info
Gene	MCCC2
CLNDBN	not specified 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed	0
HGVS	NC_000005.9:g.70945029T>C
CLNSRC
CLNACC	RCV000186005.3, RCV000477880.1,