rs727504006

Orientation

minus

Stabilized

minus

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

Make rs727504006(A;G)

Make rs727504006(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

183092547

Gene

MCCC1

is a	snp
is	mentioned by
dbSNP	rs727504006
dbSNP (classic)	rs727504006
ClinGen	rs727504006
ebi	rs727504006
HLI	rs727504006
Exac	rs727504006
Gnomad	rs727504006
Varsome	rs727504006
LitVar	rs727504006
Map	rs727504006
PheGenI	rs727504006
Biobank	rs727504006
1000 genomes	rs727504006
hgdp	rs727504006
ensembl	rs727504006
geneview	rs727504006
scholar	rs727504006
google	rs727504006
pharmgkb	rs727504006
gwascentral	rs727504006
openSNP	rs727504006
23andMe	rs727504006
SNPshot	rs727504006
SNPdbe	rs727504006
MSV3d	rs727504006
GWAS Ctlg	rs727504006

Max Magnitude

0

ClinVar
Risk	rs727504006(G;G)
Alt	rs727504006(G;G)
Reference	Rs727504006(A;A)
Significance	Pathogenic
Disease	not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation	info
Gene	MCCC1
CLNDBN	not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed	1
HGVS	NC_000003.11:g.182810335T>C
CLNSRC	HGMD
CLNACC	RCV000153469.2, RCV000177313.1,