rs121908608

Orientation

minus

Stabilized

minus

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

Make rs121908608(G;T)

Make rs121908608(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

53108643

Gene	LOC257396, MOCS2

is a	snp
is	mentioned by
dbSNP	rs121908608
dbSNP (classic)	rs121908608
ClinGen	rs121908608
ebi	rs121908608
HLI	rs121908608
Exac	rs121908608
Gnomad	rs121908608
Varsome	rs121908608
LitVar	rs121908608
Map	rs121908608
PheGenI	rs121908608
Biobank	rs121908608
1000 genomes	rs121908608
hgdp	rs121908608
ensembl	rs121908608
geneview	rs121908608
scholar	rs121908608
google	rs121908608
pharmgkb	rs121908608
gwascentral	rs121908608
openSNP	rs121908608
23andMe	rs121908608
SNPshot	rs121908608
SNPdbe	rs121908608
MSV3d	rs121908608
GWAS Ctlg	rs121908608

Max Magnitude

0

OMIM	603708
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908608(T;T)
Alt	rs121908608(T;T)
Reference	Rs121908608(G;G)
Significance	Pathogenic
Disease	Molybdenum cofactor deficiency
Variation	info
Gene	MOCS2 LOC257396
CLNDBN	Molybdenum cofactor deficiency, complementation group B
Reversed	1
HGVS	NC_000005.9:g.52404473C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006488.6,