rs119103223

Orientation

plus

Stabilized

plus

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

Make rs119103223(C;C)

Make rs119103223(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

71632185

Gene

MCCC2

is a	snp
is	mentioned by
dbSNP	rs119103223
dbSNP (classic)	rs119103223
ClinGen	rs119103223
ebi	rs119103223
HLI	rs119103223
Exac	rs119103223
Gnomad	rs119103223
Varsome	rs119103223
LitVar	rs119103223
Map	rs119103223
PheGenI	rs119103223
Biobank	rs119103223
1000 genomes	rs119103223
hgdp	rs119103223
ensembl	rs119103223
geneview	rs119103223
scholar	rs119103223
google	rs119103223
pharmgkb	rs119103223
gwascentral	rs119103223
openSNP	rs119103223
23andMe	rs119103223
SNPshot	rs119103223
SNPdbe	rs119103223
MSV3d	rs119103223
GWAS Ctlg	rs119103223

Max Magnitude

0

OMIM	609014
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119103223(C;C)
Alt	rs119103223(C;C)
Reference	Rs119103223(G;G)
Significance	Pathogenic
Disease	3-methylcrotonyl CoA carboxylase 2 deficiency
Variation	info
Gene	MCCC2
CLNDBN	3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed	0
HGVS	NC_000005.9:g.70928012G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002001.3,