rs747527726

Orientation

plus

Stabilized

plus

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

Make rs747527726(C;G)

Make rs747527726(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

45508981

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs747527726
dbSNP (classic)	rs747527726
ClinGen	rs747527726
ebi	rs747527726
HLI	rs747527726
Exac	rs747527726
Gnomad	rs747527726
Varsome	rs747527726
LitVar	rs747527726
Map	rs747527726
PheGenI	rs747527726
Biobank	rs747527726
1000 genomes	rs747527726
hgdp	rs747527726
ensembl	rs747527726
geneview	rs747527726
scholar	rs747527726
google	rs747527726
pharmgkb	rs747527726
gwascentral	rs747527726
openSNP	rs747527726
23andMe	rs747527726
SNPshot	rs747527726
SNPdbe	rs747527726
MSV3d	rs747527726
GWAS Ctlg	rs747527726

Max Magnitude

0

ClinVar
Risk	rs747527726(G;G) rs747527726(T;T)
Alt	rs747527726(G;G) rs747527726(T;T)
Reference	Rs747527726(C;C)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria
Variation	info
Gene	MMACHC
CLNDBN	Methylmalonic acidemia with homocystinuria
Reversed	0
HGVS	NC_000001.10:g.45974653C>G
CLNSRC
CLNACC	RCV000267790.1,