rs140522266

Orientation

plus

Stabilized

plus

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

Make rs140522266(C;C)

Make rs140522266(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45508806

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs140522266
dbSNP (classic)	rs140522266
ClinGen	rs140522266
ebi	rs140522266
HLI	rs140522266
Exac	rs140522266
Gnomad	rs140522266
Varsome	rs140522266
LitVar	rs140522266
Map	rs140522266
PheGenI	rs140522266
Biobank	rs140522266
1000 genomes	rs140522266
hgdp	rs140522266
ensembl	rs140522266
geneview	rs140522266
scholar	rs140522266
google	rs140522266
pharmgkb	rs140522266
gwascentral	rs140522266
openSNP	rs140522266
23andMe	rs140522266
SNPshot	rs140522266
SNPdbe	rs140522266
MSV3d	rs140522266
GWAS Ctlg	rs140522266

Max Magnitude

0

ClinVar
Risk	rs140522266(A;A) rs140522266(C;C)
Alt	rs140522266(A;A) rs140522266(C;C)
Reference	Rs140522266(G;G)
Significance	Pathogenic
Disease	not provided Disorders of Intracellular Cobalamin Metabolism
Variation	info
Gene	MMACHC
CLNDBN	not provided Disorders of Intracellular Cobalamin Metabolism
Reversed	0
HGVS	NC_000001.10:g.45974478G>A; NC_000001.10:g.45974478G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186029.1, RCV000186028.2, RCV000262040.1,