rs121918607

Orientation

minus

Stabilized

minus

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

Make rs121918607(A;A)

Make rs121918607(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

34292467

Gene

AHCY

is a	snp
is	mentioned by
dbSNP	rs121918607
dbSNP (classic)	rs121918607
ClinGen	rs121918607
ebi	rs121918607
HLI	rs121918607
Exac	rs121918607
Gnomad	rs121918607
Varsome	rs121918607
LitVar	rs121918607
Map	rs121918607
PheGenI	rs121918607
Biobank	rs121918607
1000 genomes	rs121918607
hgdp	rs121918607
ensembl	rs121918607
geneview	rs121918607
scholar	rs121918607
google	rs121918607
pharmgkb	rs121918607
gwascentral	rs121918607
openSNP	rs121918607
23andMe	rs121918607
SNPshot	rs121918607
SNPdbe	rs121918607
MSV3d	rs121918607
GWAS Ctlg	rs121918607

Max Magnitude

0

OMIM	180960
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918607(A;A)
Alt	rs121918607(A;A)
Reference	Rs121918607(G;G)
Significance	Pathogenic
Disease	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
Variation	info
Gene	AHCY
CLNDBN	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
Reversed	1
HGVS	NC_000020.10:g.32880273C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013818.18,