rs119103226

Orientation

plus

Stabilized

plus

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

Make rs119103226(G;T)

Make rs119103226(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

71634977

Gene

MCCC2

is a	snp
is	mentioned by
dbSNP	rs119103226
dbSNP (classic)	rs119103226
ClinGen	rs119103226
ebi	rs119103226
HLI	rs119103226
Exac	rs119103226
Gnomad	rs119103226
Varsome	rs119103226
LitVar	rs119103226
Map	rs119103226
PheGenI	rs119103226
Biobank	rs119103226
1000 genomes	rs119103226
hgdp	rs119103226
ensembl	rs119103226
geneview	rs119103226
scholar	rs119103226
google	rs119103226
pharmgkb	rs119103226
gwascentral	rs119103226
openSNP	rs119103226
23andMe	rs119103226
SNPshot	rs119103226
SNPdbe	rs119103226
MSV3d	rs119103226
GWAS Ctlg	rs119103226

GMAF

0.0004591

Max Magnitude

0

OMIM	609014
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119103226(T;T)
Alt	rs119103226(T;T)
Reference	Rs119103226(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.70930804G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002004.3,