rs397518417

Orientation

minus

Stabilized

minus

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

Make rs397518417(-;-)

Make rs397518417(-;TAGGCGGGATGGTGCCGCTGTGC)

Reference

GRCh38 38.1/141

Chromosome

5

Position

53109715

Gene	LOC257396, MOCS2

is a	snp
is	mentioned by
dbSNP	rs397518417
dbSNP (classic)	rs397518417
ClinGen	rs397518417
ebi	rs397518417
HLI	rs397518417
Exac	rs397518417
Gnomad	rs397518417
Varsome	rs397518417
LitVar	rs397518417
Map	rs397518417
PheGenI	rs397518417
Biobank	rs397518417
1000 genomes	rs397518417
hgdp	rs397518417
ensembl	rs397518417
geneview	rs397518417
scholar	rs397518417
google	rs397518417
pharmgkb	rs397518417
gwascentral	rs397518417
openSNP	rs397518417
23andMe	rs397518417
SNPshot	rs397518417
SNPdbe	rs397518417
MSV3d	rs397518417
GWAS Ctlg	rs397518417

Max Magnitude

0

ClinVar
Risk	rs397518417(-;-)
Alt	rs397518417(-;-)
Reference	Rs397518417(TAGGCGGGATGGTGCCGCTGTGC;TAGGCGGGATGGTGCCGCTGTGC)
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.52405545_52405567del23
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006490.3,