rs538023671

Orientation

plus

Stabilized

plus

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

Make rs538023671(C;G)

Make rs538023671(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45508982

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs538023671
dbSNP (classic)	rs538023671
ClinGen	rs538023671
ebi	rs538023671
HLI	rs538023671
Exac	rs538023671
Gnomad	rs538023671
Varsome	rs538023671
LitVar	rs538023671
Map	rs538023671
PheGenI	rs538023671
Biobank	rs538023671
1000 genomes	rs538023671
hgdp	rs538023671
ensembl	rs538023671
geneview	rs538023671
scholar	rs538023671
google	rs538023671
pharmgkb	rs538023671
gwascentral	rs538023671
openSNP	rs538023671
23andMe	rs538023671
SNPshot	rs538023671
SNPdbe	rs538023671
MSV3d	rs538023671
GWAS Ctlg	rs538023671

Max Magnitude

0

ClinVar
Risk	rs538023671(G;G) rs538023671(T;T)
Alt	rs538023671(G;G) rs538023671(T;T)
Reference	Rs538023671(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.45974654C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000490478.1,