rs119103216

Orientation

minus

Stabilized

minus

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

Make rs119103216(C;T)

Make rs119103216(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

183034068

Gene

MCCC1

is a	snp
is	mentioned by
dbSNP	rs119103216
dbSNP (classic)	rs119103216
ClinGen	rs119103216
ebi	rs119103216
HLI	rs119103216
Exac	rs119103216
Gnomad	rs119103216
Varsome	rs119103216
LitVar	rs119103216
Map	rs119103216
PheGenI	rs119103216
Biobank	rs119103216
1000 genomes	rs119103216
hgdp	rs119103216
ensembl	rs119103216
geneview	rs119103216
scholar	rs119103216
google	rs119103216
pharmgkb	rs119103216
gwascentral	rs119103216
openSNP	rs119103216
23andMe	rs119103216
SNPshot	rs119103216
SNPdbe	rs119103216
MSV3d	rs119103216
GWAS Ctlg	rs119103216

Max Magnitude

0

OMIM	609010
Desc
Variant	0005
Related	also

ClinVar
Risk	rs119103216(T;T)
Alt	rs119103216(T;T)
Reference	Rs119103216(C;C)
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.182751856G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002010.3,