rs119103215

Orientation

minus

Stabilized

minus

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

Make rs119103215(C;C)

Make rs119103215(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

183039093

Gene

MCCC1

is a	snp
is	mentioned by
dbSNP	rs119103215
dbSNP (classic)	rs119103215
ClinGen	rs119103215
ebi	rs119103215
HLI	rs119103215
Exac	rs119103215
Gnomad	rs119103215
Varsome	rs119103215
LitVar	rs119103215
Map	rs119103215
PheGenI	rs119103215
Biobank	rs119103215
1000 genomes	rs119103215
hgdp	rs119103215
ensembl	rs119103215
geneview	rs119103215
scholar	rs119103215
google	rs119103215
pharmgkb	rs119103215
gwascentral	rs119103215
openSNP	rs119103215
23andMe	rs119103215
SNPshot	rs119103215
SNPdbe	rs119103215
MSV3d	rs119103215
GWAS Ctlg	rs119103215

Merged from

Rs28934882

Max Magnitude

0

OMIM	609010
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119103215(C;C)
Alt	rs119103215(C;C)
Reference	Rs119103215(T;T)
Significance	Pathogenic
Disease	3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation	info
Gene	MCCC1
CLNDBN	3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed	1
HGVS	NC_000003.11:g.182756881A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002009.4,