rs119103213

Orientation

minus

Stabilized

minus

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

Make rs119103213(A;C)

Make rs119103213(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

183041679

Gene

MCCC1

is a	snp
is	mentioned by
dbSNP	rs119103213
dbSNP (classic)	rs119103213
ClinGen	rs119103213
ebi	rs119103213
HLI	rs119103213
Exac	rs119103213
Gnomad	rs119103213
Varsome	rs119103213
LitVar	rs119103213
Map	rs119103213
PheGenI	rs119103213
Biobank	rs119103213
1000 genomes	rs119103213
hgdp	rs119103213
ensembl	rs119103213
geneview	rs119103213
scholar	rs119103213
google	rs119103213
pharmgkb	rs119103213
gwascentral	rs119103213
openSNP	rs119103213
23andMe	rs119103213
SNPshot	rs119103213
SNPdbe	rs119103213
MSV3d	rs119103213
GWAS Ctlg	rs119103213

Merged from

Rs28934881

Max Magnitude

0

OMIM	609010
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119103213(C;C)
Alt	rs119103213(C;C)
Reference	Rs119103213(A;A)
Significance	Pathogenic
Disease	3 Methylcrotonyl-CoA carboxylase 1 deficiency not provided
Variation	info
Gene	MCCC1
CLNDBN	3 Methylcrotonyl-CoA carboxylase 1 deficiency not provided
Reversed	1
HGVS	NC_000003.11:g.182759467T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002007.5, RCV000153465.2,