rs121908607

Orientation

minus

Stabilized

minus

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

Make rs121908607(C;T)

Make rs121908607(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

53109714

Gene	LOC257396, MOCS2

is a	snp
is	mentioned by
dbSNP	rs121908607
dbSNP (classic)	rs121908607
ClinGen	rs121908607
ebi	rs121908607
HLI	rs121908607
Exac	rs121908607
Gnomad	rs121908607
Varsome	rs121908607
LitVar	rs121908607
Map	rs121908607
PheGenI	rs121908607
Biobank	rs121908607
1000 genomes	rs121908607
hgdp	rs121908607
ensembl	rs121908607
geneview	rs121908607
scholar	rs121908607
google	rs121908607
pharmgkb	rs121908607
gwascentral	rs121908607
openSNP	rs121908607
23andMe	rs121908607
SNPshot	rs121908607
SNPdbe	rs121908607
MSV3d	rs121908607
GWAS Ctlg	rs121908607

Max Magnitude

0

OMIM	603708
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908607(T;T)
Alt	rs121908607(T;T)
Reference	Rs121908607(C;C)
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.52405544G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006487.5,